BLOC-3 mutated in Hermansky-Pudlak syndrome is a Rab32/38 guanine nucleotide exchange factor.

BLOC-3 mutated in Hermansky-Pudlak syndrome is a Rab32/38 guanine nucleotide exchange factor.

Hiển thị phiên bản (1) khác

Hermansky-Pudlak syndrome (HPS) is a human disease characterized by partial loss of pigmentation and impaired blood clotting. These symptoms are caused by defects in the biogenesis of melanosomes and platelet dense granules, often referred to as lysosome-related organelles. Genes mutated in HPS enco...

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Chi tiết về thư mục
Những tác giả chính:	Gerondopoulos, A, Langemeyer, L, Liang, JR, Linford, A, Barr, F
Định dạng:	Journal article
Ngôn ngữ:	English
Được phát hành:	2012

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