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Article

BMPR2 mutations have short lifetime expectancy in primary pulmonary hypertension.

Human mutation - 1 Aug 2005

Sankelo Marja, Flanagan Julia A, Machado Rajiv, Harrison Rachel, Rudarakanchana Nung, Morrell Nicholas, Dixon Morag, Halme Maija, Puolijoki Hannu, Kere Juha, Elomaa Outi, Kupari Markku, Räisänen-Sokolowski Anne, Trembath Richard C, Laitinen Tarja

Abstract excerpt

In a nationwide study, we identified a total of 59 patients diagnosed with primary pulmonary hypertension (PPH) in Finland between the years 1987 and 1999. These data support a minimum estimate for a PPH population prevalence of 5.8 cases/million with an incidence of 0.2-1.3 cases/million/year. The male-to-female ratio among the patients was 1:4, while 7% (4/59) of the PPH probands had a known family history of...

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Source

Identifiers

PMID: 15965979
DOI: 10.1002/humu.20200

Genes

BMPR2

Variants

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