Article
BMPR2 gene rearrangements account for a significant proportion of mutations in familial and idiopathic pulmonary arterial hypertension.
Human mutation - 1 Feb 2006
Aldred Micheala A, Vijayakrishnan Jairam, James Victoria, Soubrier Florent, Gomez-Sanchez Miguel A, Martensson Gunnar, Galie Nazzareno, Manes Alessandra, Corris Paul, Simonneau Gerald, Humbert Marc, Morrell Nicholas W, Trembath Richard C
Abstract excerpt
Mutations of the BMPR2 gene predispose to pulmonary arterial hypertension (PAH), a serious, progressive disease of the pulmonary vascular system. However, despite the fact that most PAH families are consistent with linkage to the BMPR2 locus, sequencing only identifies mutations in some 55% of familial cases and between 10% and 40% of cases without a family history (idiopathic or IPAH). We therefore conducted a...
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