EIF2AK4 Mutations in Pulmonary Capillary Hemangiomatosis

BACKGROUND: Pulmonary capillary hemangiomatosis (PCH) is a rare disease of capillary proliferation of unknown cause and with a high mortality. Families with multiple affected individuals with PCH suggest a heritable cause although the genetic etiology remains unknown. METHODS: We used exome sequenci...

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Detalhes bibliográficos
Main Authors: Best, D. Hunter, Sumner, Kelli L., Austin, Eric D., Chung, Wendy K., Brown, Lynette M., Borczuk, Alain C., Rosenzweig, Erika B., Bayrak-Toydemir, Pinar, Mao, Rong, Cahill, Barbara C., Tazelaar, Henry D., Leslie, Kevin O., Hemnes, Anna R., Robbins, Ivan M., Elliott, C. Gregory
Formato: Artigo
Idioma:Inglês
Publicado em: American College of Chest Physicians 2014
Assuntos:
Original Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3921094/
https://ncbi.nlm.nih.gov/pubmed/24135949
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1378/chest.13-2366
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