✦ LIBER ✦

Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I

✍ Scribed by Lifton, Richard P.; Geller, David S.; Rodriguez-Soriano, Juan; Boado, Alfredo V.; Schifter, Søren; Bayer, Milan; Chang, Sue S.

Book ID: 109832192
Publisher: Nature Publishing Group
Year: 1998
Tongue: English
Weight: 85 KB
Volume: 19
Category: Article
ISSN: 1061-4036
DOI: 10.1038/966

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mineralocorticoid receptor mutations are

Mineralocorticoid receptor mutations are the principal cause of renal type 1 pseudohypoaldosteronism

✍ Lucie Pujo; Jérôme Fagart; Françoise Gary; Dimitris T. Papadimitriou; Aurélie Cl 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 307 KB

Communicated by

Germline mutations in the thyrotropin re

Germline mutations in the thyrotropin receptor gene cause non–autoimmune autosomal dominant hyperthyroidism

✍ Duprez, Laurence; Parma, Jasmine; Van Sande, Jacqueline; Allgeier, Anouk; Leclèr 📂 Article 📅 1994 🏛 Nature Publishing Group 🌐 English ⚖ 746 KB

Mutations of the EPHA2 receptor tyrosine

Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract

✍ Tianxiao Zhang; Rui Hua; Wei Xiao; Kathryn P. Burdon; Shomi S. Bhattacharya; Jam 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 520 KB

Congenital cataracts (CCs) are clinically and genetically heterogeneous. Mutations in the same gene may lead to CCs differing in inheritance, morphology and severity. Loci for autosomal dominant posterior polar CC and total CC have both been mapped to the chromosomal 1p36 region harboring the EPHA2

Mutations in the caveolin-3 gene cause a

Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy

✍ Minetti, Carlo; Sotgia, Federica; Bruno, Claudio; Scartezzini, Paolo; Broda, Pao 📂 Article 📅 1998 🏛 Nature Publishing Group 🌐 English ⚖ 743 KB

Mutations in the human α-tectorin gene c

Mutations in the human α-tectorin gene cause autosomal dominant non-syndromic hearing impairment

✍ Verhoeven, Kristien; Laer, Lut Van; Kirschhofer, Karin; Legan, P. Kevin; Hughes, 📂 Article 📅 1998 🏛 Nature Publishing Group 🌐 English ⚖ 585 KB

Correction: Mutations in the human α-tec

Correction: Mutations in the human α-tectorin gene cause autosomal dominant non-syndromic hearing impairment

✍ Viani, Mario B.; Pietrasanta, Lia I.; Thompson, James B.; Chand, Ami; Gebeshuber 📂 Article 📅 1999 🏛 Nature Publishing Group 🌐 English ⚖ 26 KB