Sequencing of mutations in the serine/threonine kinase domain of the bone morphogenetic protein receptor type 2 gene causing pulmonary arterial hypertension
Makaleler > Tam Makale · 2015
Yazarlar: Zeynep Mutlu, Latife Meral KAYIKÇIOĞLU, Sanem NALBANTGİL, Ozcan Vuran, Hatice Kemal, Nesrin MOĞULKOÇ BISHOP, Biray Erturk, HÜSEYİN ONAY, Fatma Zuhal EROĞLU, Kadir Hakan KÜLTÜRSAY
ANATOLIAN JOURNAL OF CARDIOLOGY, SCI Expanded İndekslerine Giren Dergi, Uluslararası, 2015, cilt 16, ss 491-496
DOI: 10.5152/anatoljcardiol.2015.6297
Özet
Objective: Germline mutations in the bone morphogenetic protein receptor type-2 (BMPR2) gene are considered to be a major risk factor for pulmonary arterial hypertension (PAH). BMPR2 mutations have been reported in 10%-20% of idiopathic PAH and in 80% of familial PAH cases. The aim of this study was to evaluate the frequency of mutations in the serine/threonine kinase domain of the BMPR2 gene in a group of patients from a single PAH referral center in Turkey.