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CLCN2 chloride channel mutations in familial hyperaldosteronism type II.
Scholl UI, Stölting G, Schewe J, Thiel A, Tan H, Nelson-Williams C, Vichot AA, Jin SC, Loring E, Untiet V, Yoo T, Choi J, Xu S, Wu A, Kirchner M, Mertins P, Rump LC, Onder AM, Gamble C, McKenney D, Lash RW, Jones DP, Chune G, Gagliardi P, Choi M, Gordon R, Stowasser M, Fahlke C, Lifton RP. Scholl UI, et al. Among authors: thiel a. Nat Genet. 2018 Mar;50(3):349-354. doi: 10.1038/s41588-018-0048-5. Epub 2018 Feb 5. Nat Genet. 2018. PMID: 29403011 Free PMC article.
Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism.
Scholl UI, Stölting G, Nelson-Williams C, Vichot AA, Choi M, Loring E, Prasad ML, Goh G, Carling T, Juhlin CC, Quack I, Rump LC, Thiel A, Lande M, Frazier BG, Rasoulpour M, Bowlin DL, Sethna CB, Trachtman H, Fahlke C, Lifton RP. Scholl UI, et al. Among authors: thiel a. Elife. 2015 Apr 24;4:e06315. doi: 10.7554/eLife.06315. Elife. 2015. PMID: 25907736 Free PMC article.
Novel somatic mutations in primary hyperaldosteronism are related to the clinical, radiological and pathological phenotype.
Scholl UI, Healy JM, Thiel A, Fonseca AL, Brown TC, Kunstman JW, Horne MJ, Dietrich D, Riemer J, Kücükköylü S, Reimer EN, Reis AC, Goh G, Kristiansen G, Mahajan A, Korah R, Lifton RP, Prasad ML, Carling T. Scholl UI, et al. Among authors: thiel a. Clin Endocrinol (Oxf). 2015 Dec;83(6):779-89. doi: 10.1111/cen.12873. Epub 2015 Sep 23. Clin Endocrinol (Oxf). 2015. PMID: 26252618 Free PMC article.
690 results