Article
Genetic Interactions Between TRPC6 and NPHS1 Variants Affect Posttransplant Risk of Recurrent Focal Segmental Glomerulosclerosis.
American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons - 1 Dec 2015
Sun Z J, Ng K H, Liao P, Zhang Y, Ng J L, Liu I D, Tan P H, Chong S S C, Chan Y H, Liu J, Davila S, Heng C K, Jordan S C, Soong T W, Yap H K
Abstract excerpt
Individuals with TRPC6 mutations have variable phenotypes, ranging from healthy carrier to focal segmental glomerulosclerosis (FSGS) leading to renal failure. Here, we describe a family where six members had a novel TRPC6 p.R68W (c.202C>T) mutation, two of whom had renal failure from FSGS, and one had proteinuria. One healthy carrier donated a kidney to her sister. Both donor and recipient had no proteinuria at...
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