Synergistic heterozygosity for TGFbeta1 SNPs and BMPR2 mutations modulates the age at diagnosis and penetrance of familial pulmonary arterial hypertension.

Phillips JA, Poling JS, Phillips CA, Stanton KC, Austin ED, Cogan JD, Wheeler L, Yu C, Newman JH, Dietz HC, Loyd JE
Genet Med. 2008 10 (5): 359-65

PMID: 18496036 · DOI:10.1097/GIM.0b013e318172dcdf

MeSH Terms (14)

Adult Age Factors Bone Morphogenetic Protein Receptors, Type II Female Heterozygote Humans Hypertension, Pulmonary Male Mutation Pedigree Penetrance Polymorphism, Single Nucleotide Smad2 Protein Transforming Growth Factor beta1

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