نتایج جستجو برای: pudlak syndrome
تعداد نتایج: 621943 فیلتر نتایج به سال:
The Hermansky-Pudlak syndrome consists of albinism, platelet function defect, pigment laden macrophases and, on occasions, pulmonary fibrosis. The clinical course and postmortem findings of a patient with pulmonary fibrosis which mimicked cryptogenic fibrosing alveolitis are reported. Histological examination revealed a chronic inflammatory infiltrate of pigment laden microphages.
Prominent subtypes of the genetic disorder Hermansky-Pudlak syndrome result from defects in a mysterious protein complex, BLOC-3. New work identifies BLOC-3 as a guanine nucleotide exchange factor for two RAB GTPases previously implicated in lysosome-related organelle biogenesis.
The genetic and molecular bases of various types of congenital pigmentary disorders have been classified in the past 10 years, as follows: (1) disorders of melanoblast migration in the embryo from the neural crest to the skin: piebaldism; Waardenburg syndrome 1-4 (WS1-WS4); dyschromatosis symmetrica hereditaria. (2) Disorders of melanosome formation in the melanocyte: Hermansky-Pudlak syndrome ...
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