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ELMOD2 Is a Candidate Gene for Familial Idiopathic Pulmonary Fibrosis

✍ Scribed by Ulla Hodgson; Ville Pulkkinen; Morag Dixon; Myriam Peyrard-Janvid; Marko Rehn; Päivi Lahermo; Vesa Ollikainen; Kaisa Salmenkivi; Vuokko Kinnula; Juha Kere; Pentti Tukiainen; Tarja Laitinen

Book ID
117854824
Publisher
American Society of Human Genetics
Year
2006
Tongue
English
Weight
752 KB
Volume
79
Category
Article
ISSN
0002-9297

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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 famil