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Recurrence of the R947X Mutation in Unrelated Families with Autosomal Dominant Pseudohypoaldosteronism Type 1: Evidence for a Mutational Hot Spot in the Mineralocorticoid Receptor Gene

机译：具有常染色体显性伪蛋白表达型的无关族R947x突变的复发1：矿物质皮质激素受体基因突变热点的证据

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Fabio L. Fernandes-Rosa; Margaret de Castro; Ana Claudia Latronico; Wolfgang G. Sippell; Felix G. Riepe; Sonir R. Antonini;
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1. A novel mutation in the human mineralocorticoid receptor gene in a Japanese family with autosomal-dominant pseudohypoaldosteronism type 1 [J] . Yoshimi Nishizaki, Makoto Hiura, Hidetoshi Sato, Clinical Pediatric Endocrinology . 2016,第4期

机译：一个日本人家族中人类盐皮质激素受体基因的新型突变，常染色体显性遗传性假性醛固酮增多症1型
2. Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I [J] . Geller DS., Boado AV., Schifter S., Nature Genetics . 1998,第3期

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6. A novel mutation in the human mineralocorticoid receptor gene in a Japanese family with autosomal-dominant pseudohypoaldosteronism type 1 [O] . Yoshimi Nishizaki, Makoto Hiura, Hidetoshi Sato, 2016

机译：一个日本人家庭中盐皮质激素受体基因的新型突变常染色体显性遗传性假性醛固酮增多症1型
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机译：伪型蛋白酶体癌症遗传异质性的证据1：在一个散发性案例中鉴定人类矿物质皮质激素受体中的新突变，两种常染色体显性胶片中没有突变

Recurrence of the R947X Mutation in Unrelated Families with Autosomal Dominant Pseudohypoaldosteronism Type 1: Evidence for a Mutational Hot Spot in the Mineralocorticoid Receptor Gene

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