Truncating and missense BMPR2 mutations differentially affect the severity of heritable pulmonary arterial hypertension.
第一作者:
Eric D,Austin
第一单位:
Department of Pediatrics, Vanderbilt University, Medical Center, Nashville, TN, USA. eric.austin@vanderbilt.edu
作者:
主题词
成年人(Adult);骨形态发生蛋白受体, Ⅱ型(Bone Morphogenetic Protein Receptors, Type II);女(雌)性(Female);疾病遗传易感性(Genetic Predisposition to Disease);人类(Humans);高血压, 肺性(Hypertension, Pulmonary);发病率(Incidence);男(雄)性(Male);突变(Mutation);突变, 误义(Mutation, Missense);多态性, 单核苷酸(Polymorphism, Single Nucleotide);疾病严重程度指数(Severity of Illness Index);田纳西(Tennessee)
DOI
10.1186/1465-9921-10-87
PMID
19785764
发布时间
2025-01-04
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