Article
Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles.
Nature genetics - 1 Nov 1996
Oh J, Bailin T, Fukai K, Feng G H, Ho L, Mao J I, Frenk E, Tamura N, Spritz R A
Abstract excerpt
Hermansky-Pudlak syndrome (HPS) is an often-fatal autosomal recessive disease in which albinism, bleeding, and lysosomal storage result from defects of diverse cytoplasmic organelles: melanosomes, platelet dense bodies, and lysosomes. HPS is the most common single-gene disorder in Puerto Rico, with an incidence of 1 in 1,800. We have identified the HPS gene by positional cloning, and found homozygous frameshifts...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.