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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...
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| Vydáno v: | Ann Am Thorac Soc |
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| Hlavní autoři: | , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
American Thoracic Society
2016
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| Témata: | |
| On-line přístup: | 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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