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Expression of theH2-Eagene is modulated by a polymorphic transcriptional enhancer

✍ Scribed by Michal Janitz; Luzie Reiners-Schramm; R. Lauster

Book ID
105948629
Publisher
Springer-Verlag
Year
1998
Tongue
English
Weight
554 KB
Volume
48
Category
Article
ISSN
0093-7711

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Penetrance of pulmonary arterial hyperte
Penetrance of pulmonary arterial hypertension is modulated by the expression of normal BMPR2 allele
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Familial pulmonary arterial hypertension (FPAH) is a progressive, fatal disease caused by mutations in the bone morphogenetic protein receptor type 2 gene (BMPR2). FPAH is inherited as an autosomal dominant trait, and shows incomplete penetrance in that many with BMPR2 mutations do not develop FPAH,