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Hermansky Pudlak Syndrome Protein 1 (HPS1)

HPS1 encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Multiple transcript variants encoding distinct isoforms have been identified for this gene; the full-length sequences of some of these have not been determined yet.Size exclusion chromatography and sedimentation velocity analysis of the cytosolic fraction indicated that HPS1 and HPS4 formed a moderately asymmetric complex with a molecular mass of about 175 kD.

Organism species: Homo sapiens (Human)

PRODUCT TYPE CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins NONE Recombinant Hermansky Pudlak Syndrome Protein 1 (HPS1) Positive Control; Immunogen; SDS-PAGE; WB.
NONE Native Hermansky Pudlak Syndrome Protein 1 (HPS1) Bioactivity
Antibodies NONE Monoclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) WB; IHC; ICC; IP.
NONE Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) WB; IHC; ICC; IF.
NONE Biotin Linked-Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) ELISA(Det);IC; IH; IH(P); WB
NONE APC Linked-Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) IHC, WB
NONE HRP Linked-Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) Simple Western; WB
NONE PE Linked-Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) Flow Cytometry
NONE FITC Linked-Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) Flow Cytometry;ICC/IF
Assay Kits NONE ELISA Kit for Hermansky Pudlak Syndrome Protein 1 (HPS1) Enzyme-linked immunosorbent assay for Antigen Detection
NONE CLIA kit for Hermansky Pudlak Syndrome Protein 1 (HPS1) CLIA assay for Antigen Detection

Organism species: Mus musculus (Mouse)

PRODUCT TYPE CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins M791Mu01 Recombinant Hermansky Pudlak Syndrome Protein 1 (HPS1) Positive Control; Immunogen; SDS-PAGE; WB.
NONE Native Hermansky Pudlak Syndrome Protein 1 (HPS1) Bioactivity
Antibodies NONE Monoclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) WB; IHC; ICC; IP.
NONE Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) WB; IHC; ICC; IF.
NONE Biotin Linked-Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) ELISA(Det);IC; IH; IH(P); WB
NONE APC Linked-Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) IHC, WB
NONE HRP Linked-Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) Simple Western; WB
NONE PE Linked-Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) Flow Cytometry
NONE FITC Linked-Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) Flow Cytometry;ICC/IF
Assay Kits NONE ELISA Kit for Hermansky Pudlak Syndrome Protein 1 (HPS1) Enzyme-linked immunosorbent assay for Antigen Detection
NONE CLIA kit for Hermansky Pudlak Syndrome Protein 1 (HPS1) CLIA assay for Antigen Detection

Organism species: Rattus norvegicus (Rat)

PRODUCT TYPE CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins NONE Recombinant Hermansky Pudlak Syndrome Protein 1 (HPS1) Positive Control; Immunogen; SDS-PAGE; WB.
NONE Native Hermansky Pudlak Syndrome Protein 1 (HPS1) Bioactivity
Antibodies NONE Monoclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) WB; IHC; ICC; IP.
NONE Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) WB; IHC; ICC; IF.
NONE Biotin Linked-Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) ELISA(Det);IC; IH; IH(P); WB
NONE APC Linked-Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) IHC, WB
NONE HRP Linked-Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) Simple Western; WB
NONE PE Linked-Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) Flow Cytometry
NONE FITC Linked-Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) Flow Cytometry;ICC/IF
Assay Kits NONE ELISA Kit for Hermansky Pudlak Syndrome Protein 1 (HPS1) Enzyme-linked immunosorbent assay for Antigen Detection
NONE CLIA kit for Hermansky Pudlak Syndrome Protein 1 (HPS1) CLIA assay for Antigen Detection

Organism species: Canis familiaris; Canine (Dog)

PRODUCT TYPE CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins NONE Recombinant Hermansky Pudlak Syndrome Protein 1 (HPS1) Positive Control; Immunogen; SDS-PAGE; WB.
NONE Native Hermansky Pudlak Syndrome Protein 1 (HPS1) Bioactivity
Antibodies NONE Monoclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) WB; IHC; ICC; IP.
NONE Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) WB; IHC; ICC; IF.
NONE Biotin Linked-Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) ELISA(Det);IC; IH; IH(P); WB
NONE APC Linked-Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) IHC, WB
NONE HRP Linked-Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) Simple Western; WB
NONE PE Linked-Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) Flow Cytometry
NONE FITC Linked-Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) Flow Cytometry;ICC/IF
Assay Kits NONE ELISA Kit for Hermansky Pudlak Syndrome Protein 1 (HPS1) Enzyme-linked immunosorbent assay for Antigen Detection
NONE CLIA kit for Hermansky Pudlak Syndrome Protein 1 (HPS1) CLIA assay for Antigen Detection

Organism species: Sus scrofa; Porcine (Pig)

PRODUCT TYPE CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins NONE Recombinant Hermansky Pudlak Syndrome Protein 1 (HPS1) Positive Control; Immunogen; SDS-PAGE; WB.
NONE Native Hermansky Pudlak Syndrome Protein 1 (HPS1) Bioactivity
Antibodies NONE Monoclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) WB; IHC; ICC; IP.
NONE Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) WB; IHC; ICC; IF.
NONE Biotin Linked-Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) ELISA(Det);IC; IH; IH(P); WB
NONE APC Linked-Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) IHC, WB
NONE HRP Linked-Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) Simple Western; WB
NONE PE Linked-Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) Flow Cytometry
NONE FITC Linked-Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) Flow Cytometry;ICC/IF
Assay Kits NONE ELISA Kit for Hermansky Pudlak Syndrome Protein 1 (HPS1) Enzyme-linked immunosorbent assay for Antigen Detection
NONE CLIA kit for Hermansky Pudlak Syndrome Protein 1 (HPS1) CLIA assay for Antigen Detection

Organism species: Bos taurus; Bovine (Cattle)

PRODUCT TYPE CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins NONE Recombinant Hermansky Pudlak Syndrome Protein 1 (HPS1) Positive Control; Immunogen; SDS-PAGE; WB.
NONE Native Hermansky Pudlak Syndrome Protein 1 (HPS1) Bioactivity
Antibodies NONE Monoclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) WB; IHC; ICC; IP.
NONE Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) WB; IHC; ICC; IF.
NONE Biotin Linked-Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) ELISA(Det);IC; IH; IH(P); WB
NONE APC Linked-Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) IHC, WB
NONE HRP Linked-Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) Simple Western; WB
NONE PE Linked-Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) Flow Cytometry
NONE FITC Linked-Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) Flow Cytometry;ICC/IF
Assay Kits NONE ELISA Kit for Hermansky Pudlak Syndrome Protein 1 (HPS1) Enzyme-linked immunosorbent assay for Antigen Detection
NONE CLIA kit for Hermansky Pudlak Syndrome Protein 1 (HPS1) CLIA assay for Antigen Detection

Organism species: Rhesus monkey (Simian)

PRODUCT TYPE CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins NONE Recombinant Hermansky Pudlak Syndrome Protein 1 (HPS1) Positive Control; Immunogen; SDS-PAGE; WB.
NONE Native Hermansky Pudlak Syndrome Protein 1 (HPS1) Bioactivity
Antibodies NONE Monoclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) WB; IHC; ICC; IP.
NONE Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) WB; IHC; ICC; IF.
NONE Biotin Linked-Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) ELISA(Det);IC; IH; IH(P); WB
NONE APC Linked-Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) IHC, WB
NONE HRP Linked-Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) Simple Western; WB
NONE PE Linked-Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) Flow Cytometry
NONE FITC Linked-Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) Flow Cytometry;ICC/IF
Assay Kits NONE ELISA Kit for Hermansky Pudlak Syndrome Protein 1 (HPS1) Enzyme-linked immunosorbent assay for Antigen Detection
NONE CLIA kit for Hermansky Pudlak Syndrome Protein 1 (HPS1) CLIA assay for Antigen Detection

Organism species: Chicken (Gallus)

PRODUCT TYPE CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins NONE Recombinant Hermansky Pudlak Syndrome Protein 1 (HPS1) Positive Control; Immunogen; SDS-PAGE; WB.
NONE Native Hermansky Pudlak Syndrome Protein 1 (HPS1) Bioactivity
Antibodies NONE Monoclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) WB; IHC; ICC; IP.
NONE Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) WB; IHC; ICC; IF.
NONE Biotin Linked-Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) ELISA(Det);IC; IH; IH(P); WB
NONE APC Linked-Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) IHC, WB
NONE HRP Linked-Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) Simple Western; WB
NONE PE Linked-Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) Flow Cytometry
NONE FITC Linked-Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) Flow Cytometry;ICC/IF
Assay Kits NONE ELISA Kit for Hermansky Pudlak Syndrome Protein 1 (HPS1) Enzyme-linked immunosorbent assay for Antigen Detection
NONE CLIA kit for Hermansky Pudlak Syndrome Protein 1 (HPS1) CLIA assay for Antigen Detection

Organism species: Ovis aries; Ovine (Sheep)

PRODUCT TYPE CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins NONE Recombinant Hermansky Pudlak Syndrome Protein 1 (HPS1) Positive Control; Immunogen; SDS-PAGE; WB.
NONE Native Hermansky Pudlak Syndrome Protein 1 (HPS1) Bioactivity
Antibodies NONE Monoclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) WB; IHC; ICC; IP.
NONE Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) WB; IHC; ICC; IF.
NONE Biotin Linked-Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) ELISA(Det);IC; IH; IH(P); WB
NONE APC Linked-Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) IHC, WB
NONE HRP Linked-Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) Simple Western; WB
NONE PE Linked-Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) Flow Cytometry
NONE FITC Linked-Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) Flow Cytometry;ICC/IF
Assay Kits NONE ELISA Kit for Hermansky Pudlak Syndrome Protein 1 (HPS1) Enzyme-linked immunosorbent assay for Antigen Detection
NONE CLIA kit for Hermansky Pudlak Syndrome Protein 1 (HPS1) CLIA assay for Antigen Detection

Organism species: Oryctolagus cuniculus (Rabbit)

PRODUCT TYPE CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins NONE Recombinant Hermansky Pudlak Syndrome Protein 1 (HPS1) Positive Control; Immunogen; SDS-PAGE; WB.
NONE Native Hermansky Pudlak Syndrome Protein 1 (HPS1) Bioactivity
Antibodies NONE Monoclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) WB; IHC; ICC; IP.
NONE Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) WB; IHC; ICC; IF.
NONE Biotin Linked-Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) ELISA(Det);IC; IH; IH(P); WB
NONE APC Linked-Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) IHC, WB
NONE HRP Linked-Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) Simple Western; WB
NONE PE Linked-Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) Flow Cytometry
NONE FITC Linked-Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) Flow Cytometry;ICC/IF
Assay Kits NONE ELISA Kit for Hermansky Pudlak Syndrome Protein 1 (HPS1) Enzyme-linked immunosorbent assay for Antigen Detection
NONE CLIA kit for Hermansky Pudlak Syndrome Protein 1 (HPS1) CLIA assay for Antigen Detection

Organism species: Cavia (Guinea pig )

PRODUCT TYPE CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins NONE Recombinant Hermansky Pudlak Syndrome Protein 1 (HPS1) Positive Control; Immunogen; SDS-PAGE; WB.
NONE Native Hermansky Pudlak Syndrome Protein 1 (HPS1) Bioactivity
Antibodies NONE Monoclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) WB; IHC; ICC; IP.
NONE Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) WB; IHC; ICC; IF.
NONE Biotin Linked-Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) ELISA(Det);IC; IH; IH(P); WB
NONE APC Linked-Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) IHC, WB
NONE HRP Linked-Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) Simple Western; WB
NONE PE Linked-Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) Flow Cytometry
NONE FITC Linked-Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) Flow Cytometry;ICC/IF
Assay Kits NONE ELISA Kit for Hermansky Pudlak Syndrome Protein 1 (HPS1) Enzyme-linked immunosorbent assay for Antigen Detection
NONE CLIA kit for Hermansky Pudlak Syndrome Protein 1 (HPS1) CLIA assay for Antigen Detection

Organism species: Equus caballus; Equine (Horse)

PRODUCT TYPE CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins NONE Recombinant Hermansky Pudlak Syndrome Protein 1 (HPS1) Positive Control; Immunogen; SDS-PAGE; WB.
NONE Native Hermansky Pudlak Syndrome Protein 1 (HPS1) Bioactivity
Antibodies NONE Monoclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) WB; IHC; ICC; IP.
NONE Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) WB; IHC; ICC; IF.
NONE Biotin Linked-Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) ELISA(Det);IC; IH; IH(P); WB
NONE APC Linked-Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) IHC, WB
NONE HRP Linked-Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) Simple Western; WB
NONE PE Linked-Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) Flow Cytometry
NONE FITC Linked-Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) Flow Cytometry;ICC/IF
Assay Kits NONE ELISA Kit for Hermansky Pudlak Syndrome Protein 1 (HPS1) Enzyme-linked immunosorbent assay for Antigen Detection
NONE CLIA kit for Hermansky Pudlak Syndrome Protein 1 (HPS1) CLIA assay for Antigen Detection

Organism species: Capra hircus; Caprine (Goat)

PRODUCT TYPE CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins NONE Recombinant Hermansky Pudlak Syndrome Protein 1 (HPS1) Positive Control; Immunogen; SDS-PAGE; WB.
NONE Native Hermansky Pudlak Syndrome Protein 1 (HPS1) Bioactivity
Antibodies NONE Monoclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) WB; IHC; ICC; IP.
NONE Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) WB; IHC; ICC; IF.
NONE Biotin Linked-Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) ELISA(Det);IC; IH; IH(P); WB
NONE APC Linked-Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) IHC, WB
NONE HRP Linked-Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) Simple Western; WB
NONE PE Linked-Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) Flow Cytometry
NONE FITC Linked-Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) Flow Cytometry;ICC/IF
Assay Kits NONE ELISA Kit for Hermansky Pudlak Syndrome Protein 1 (HPS1) Enzyme-linked immunosorbent assay for Antigen Detection
NONE CLIA kit for Hermansky Pudlak Syndrome Protein 1 (HPS1) CLIA assay for Antigen Detection

Organism species: Pan-species (General)

PRODUCT TYPE CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins NONE Recombinant Hermansky Pudlak Syndrome Protein 1 (HPS1) Positive Control; Immunogen; SDS-PAGE; WB.
NONE Native Hermansky Pudlak Syndrome Protein 1 (HPS1) Bioactivity
Antibodies NONE Monoclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) WB; IHC; ICC; IP.
NONE Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) WB; IHC; ICC; IF.
NONE Biotin Linked-Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) ELISA(Det);IC; IH; IH(P); WB
NONE APC Linked-Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) IHC, WB
NONE HRP Linked-Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) Simple Western; WB
NONE PE Linked-Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) Flow Cytometry
NONE FITC Linked-Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 1 (HPS1) Flow Cytometry;ICC/IF
Assay Kits NONE ELISA Kit for Hermansky Pudlak Syndrome Protein 1 (HPS1) Enzyme-linked immunosorbent assay for Antigen Detection
NONE CLIA kit for Hermansky Pudlak Syndrome Protein 1 (HPS1) CLIA assay for Antigen Detection

Reference

"Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles."
Nat. Genet. 14:300-306(1996) [PubMed] [Europe PMC] [Abstract]

"Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene."
J. Invest. Dermatol. 108:923-927(1997) [PubMed] [Europe PMC] [Abstract]

"Identification of a novel transcript produced by the gene responsible for the Hermansky-Pudlak syndrome in Puerto Rico."
J. Invest. Dermatol. 110:777-781(1998) [PubMed] [Europe PMC] [Abstract]

"Characterization of a partial pseudogene homologous to the Hermansky-Pudlak syndrome gene HPS-1; relevance for mutation detection."
Hum. Genet. 106:370-373(2000) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence and comparative analysis of human chromosome 10."
Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism."
Hum. Mutat. 13:99-115(1999) [PubMed] [Europe PMC] [Abstract]

"Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity."
Am. J. Hum. Genet. 62:593-598(1998) [PubMed] [Europe PMC] [Abstract]