Identification of compound heterozygous KCNJ1 mutations (encoding ROMK) in a kindred with Bartter's syndrome and a functional analysis of their pathogenicity

A multiplex family was identified with biochemical and clinical features suggestive of Bartter's syndrome (BS). The eldest sibling presented with developmental delay and rickets at 4 years of age with evidence of hypercalciuria and hypokalemia. The second sibling presented at 1 year of age with...

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Bibliografiske detaljer
Main Authors: Srivastava, Shalabh, Li, Dimin, Edwards, Noel, Hynes, Ann-M, Wood, Katrina, Al-Hamed, Mohamed, Wroe, Anna C, Reaich, David, Moochhala, Shabbir H, Welling, Paul A, Sayer, John A
Format: Artigo
Sprog:Inglês
Udgivet: Blackwell Publishing Ltd 2013
Fag:
Original Research
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3871474/
https://ncbi.nlm.nih.gov/pubmed/24400161
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/phy2.160
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