Hermansky-Pudlak syndrome type 4 in a patient from Sri Lanka with pulmonary fibrosis
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.20683/fullpdf
Reference46 articles.
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2. Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico;Anikster;Nat Genet,2001
3. Pulmonary function and high-resolution CT findings in patients with an inherited form of pulmonary fibrosis, Hermansky-Pudlak syndrome, due to mutations in HPS-1;Brantly;Chest,2000
4. The Hermansky-Pudlak syndrome 1 (HPS1) and HPS4 proteins are components of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related organelles;Chiang;J Biol Chem,2003
5. Familial pulmonary fibrosis associated with oculocutaneous albinism and platelet function defect. A new syndrome;Davies;Q J Med,1976
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