Hermansky-Pudlak Syndrome Type 1 in Patients of Indian Descent

Hermansky-Pudlak syndrome (HPS) develops from defects in the biogenesis and/or function of lysosome-related organelles essential to membrane and protein trafficking. Of the eight known human subtypes, only HPS-1 and HPS-4 develop pulmonary fibrosis in addition to the general clinical manifestations...

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Main Authors: Vincent, Lisa M., Adams, David, Hess, Richard A., Ziegler, Shira G., Tsilou, Ekaterini, Golas, Gretchen, O'Brien, Kevin J., White, James G., Huizing, Marjan, Gahl, William A.
Format: Artigo
Sprog:Inglês
Udgivet: 2009
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2694228/
https://ncbi.nlm.nih.gov/pubmed/19398212
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2009.03.011
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