Human Genome Epidemiology Literature Finder
Records 1 - 3 (of 3 Records) |
Query Trace: Bartter Syndrome and CLCNKA[original query] |
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Digenic mutations involving both the BSND and GJB2 genes detected in Bartter syndrome type IV. International journal of pediatric otorhinolaryngology 2016 12 92 17-20. Wang Hong-Han, Feng Yong, Li Hai-Bo, Wu Hong, Mei Ling-Yun, Wang Xing-Wei, Jiang Lu, He Chu-Fe |
Mutation spectrum of Chinese patients with Bartter syndrome. Oncotarget 2017 12 8 (60): 101614-101622. Han Yue, Lin Yi, Sun Qing, Wang Shujuan, Gao Yanxia, Shao Lepi |
Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions. Genome medicine 2023 8 15 (1): 62. Nikolai Tschernoster, Florian Erger, Stefan Kohl, Björn Reusch, Andrea Wenzel, Stephen Walsh, Holger Thiele, Christian Becker, Marek Franitza, Malte P Bartram, Martin Kömhoff, Lena Schumacher, Christian Kukat, Tatiana Borodina, Claudia Quedenau, Peter Nürnberg, Markus M Rinschen, Jan H Driller, Bjørn P Pedersen, Karl P Schlingmann, Bruno Hüttel, Detlef Bockenhauer, Bodo Beck, Janine Altmüll |
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