Familial Primary Pulmonary Hypertension (Gene PPH1) Is Caused by Mutations in the Bone Morphogenetic Protein Receptor–II Gene

Familial primary pulmonary hypertension is a rare autosomal dominant disorder that has reduced penetrance and that has been mapped to a 3-cM region on chromosome 2q33 (locus PPH1). The phenotype is characterized by monoclonal plexiform lesions of proliferating endothelial cells in pulmonary arteriol...

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Main Authors: Deng, Zemin, Morse, Jane H., Slager, Susan L., Cuervo, Nieves, Moore, Keith J., Venetos, George, Kalachikov, Sergey, Cayanis, Eftihia, Fischer, Stuart G., Barst, Robyn J., Hodge, Susan E., Knowles, James A.
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2000
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1287532/
https://ncbi.nlm.nih.gov/pubmed/10903931
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