Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency
CYP11B1基因中七个新突变的功能后果:四个突变与非经典型11β-羟化酶缺乏症相关,三个突变导致经典型11β-羟化酶缺乏症。
期刊:Journal of Clinical Endocrinology & Metabolism
影响因子:5.1
doi:10.1210/jc.2009-0651
Parajes, Silvia; Loidi, Lourdes; Reisch, Nicole; Dhir, Vivek; Rose, Ian T; Hampel, Rainer; Quinkler, Marcus; Conway, Gerard S; Castro-Feijóo, Lidia; Araujo-Vilar, David; Pombo, Manuel; Dominguez, Fernando; Williams, Emma L; Cole, Trevor R; Kirk, Jeremy M; Kaminsky, Elke; Rumsby, Gill; Arlt, Wiebke; Krone, Nils