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 fatal and is the most common single-gene disorder in Puerto Rico. We previously characterized the human HPS cDNA and...
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