Gene: [10q23/HPS] Hermansky-Pudlak syndrome;
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PAT |
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." |
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REF |
LIN,LOC "Fukai K &: Hum Mol Genet, 4, N9, 1665-1669, 1995 HET "Hazelwood S &: AJHG, 61, N5, 1088-1094, 1997 CLO,SEQ,MUT "Oh J &: Nature Genet, 14, N3, 300-306, 1996 LIN,LOC "Wildenberg SC &: AJHG, 57, N4, 755-765, 1995 |
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CLA |
unknown, basic |
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LOC |
10 q23 |
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MIM |
MIM: 203300 |
