Truncating and missense BMPR2 mutations differentially affect the severity of heritable pulmonary arterial hypertension

BACKGROUND: Autosomal dominant inheritance of germline mutations in the bone morphogenetic protein receptor type 2 (BMPR2) gene are a major risk factor for pulmonary arterial hypertension (PAH). While previous studies demonstrated a difference in severity between BMPR2 mutation carriers and noncarri...

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Detalles Bibliográficos
Autores principales: Austin, Eric D, Phillips, John A, Cogan, Joy D, Hamid, Rizwan, Yu, Chang, Stanton, Krista C, Phillips, Charles A, Wheeler, Lisa A, Robbins, Ivan M, Newman, John H, Loyd, James E
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2009
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2762975/
https://www.ncbi.nlm.nih.gov/pubmed/19785764
http://dx.doi.org/10.1186/1465-9921-10-87

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