Pulmonary Fibrosis in Hermansky–Pudlak Syndrome

Hermansky–Pudlak syndrome (HPS) is a rare autosomal recessive genetic disorder characterized by oculocutaneous albinism and a bleeding diathesis due to platelet dysfunction. More than 50% of cases worldwide are diagnosed on the Caribbean island of Puerto Rico. Genetic testing plays a growing role in...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Ann Am Thorac Soc
Prif Awduron: Vicary, Glenn W., Vergne, Yeidyly, Santiago-Cornier, Alberto, Young, Lisa R., Roman, Jesse
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: American Thoracic Society 2016
Pynciau:
Focused Review
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC5466158/
https://ncbi.nlm.nih.gov/pubmed/27529121
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1513/AnnalsATS.201603-186FR
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