Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene.

doi:10.1111/1523-1747.ep12294634

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Article

Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene.

The Journal of investigative dermatology - 1 Jun 1997

Bailin T, Oh J, Feng G H, Fukai K, Spritz R A

Abstract excerpt

Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by oculocutaneous albinism, bleeding tendency, and lysosomal ceroid storage disease, associated with defects of multiple cytoplasmic organelles-melanosomes, platelet-dense granules, and lysosomes. HPS is frequently f...

Topics

Albinism, Oculocutaneous
Base Sequence
DNA, Complementary
Exons
Genes, Recessive
Humans
Introns
Molecular Sequence Data
Mutation
Peptides
Polymorphism, Genetic
Promoter Regions, Genetic

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