Genetic Features of Chinese Patients with Gitelman Syndrome: Sixteen Novel SLC12A3 Mutations Identified in a New Cohort.
CONCLUSION: Sixteen novel SLC12A3 pathogenic mutations were identified in a cohort of Chinese patients with GS. T60M and D486N were most frequent and appear to be important candidate alleles in Chinese patients with GS.
PMID: 27454426 [PubMed - as supplied by publisher]
Source: American Journal of Nephrology - Category: Urology & Nephrology Authors: Ma J, Ren H, Lin L, Zhang C, Wang Z, Xie J, Shen PY, Zhang W, Wang W, Chen XN, Chen N Tags: Am J Nephrol Source Type: research
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