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Linkage analysis in a large family with primary pulmonary hypertension: genetic heterogeneity and a second primary pulmonary hypertension locus on 2q31-32.

作者信息

Janssen Bart, Rindermann Matthias, Barth Ulrike, Miltenberger-Miltenyi Gabriel, Mereles Derliz, Abushi Adel, Seeger Werner, Kübler Wolfgang, Bartram Claus R, Grünig Ekkehard

机构信息

Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany.

出版信息

Chest. 2002 Mar;121(3 Suppl):54S-56S. doi: 10.1378/chest.121.3_suppl.54s.

DOI:10.1378/chest.121.3_suppl.54s
PMID:11893685
Abstract
摘要

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Identification of a new intronic BMPR2-mutation and early diagnosis of heritable pulmonary arterial hypertension in a large family with mean clinical follow-up of 12 years.在一个平均临床随访12年的大家庭中鉴定出一种新的内含子BMPR2突变并对遗传性肺动脉高压进行早期诊断。
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Genetics and genomics of pulmonary arterial hypertension.肺动脉高压的遗传学与基因组学
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