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Pre-implantation genetic diagnosis in pulmonary arterial hypertension due to BMPR2 mutation.

作者信息

Frydman Nelly, Steffann Julie, Girerd Barbara, Frydman René, Munnich Arnold, Simonneau Gérald, Humbert Marc

出版信息

Eur Respir J. 2012 Jun;39(6):1534-5. doi: 10.1183/09031936.00185011.

DOI:10.1183/09031936.00185011
PMID:22654007
Abstract
摘要

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Pre-implantation genetic diagnosis in pulmonary arterial hypertension due to BMPR2 mutation.BMPR2基因突变所致肺动脉高压的植入前基因诊断
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Clinical implications of determining BMPR2 mutation status in a large cohort of children and adults with pulmonary arterial hypertension.在一大群儿童和成人肺动脉高压患者中确定骨形态发生蛋白受体2(BMPR2)突变状态的临床意义
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