Article
Novel compound heterozygous SLC4A1 mutations in Thai patients with autosomal recessive distal renal tubular acidosis.
American journal of kidney diseases : the official journal of the National Kidney Foundation - 1 Jul 2004
Sritippayawan Suchai, Sumboonnanonda Achra, Vasuvattakul Somkiat, Keskanokwong Thitima, Sawasdee Nunghathai, Paemanee Atchara, Thuwajit Peti, Wilairat Prapon, Nimmannit Sumalee, Malasit Prida, Yenchitsomanus Pa-thai
Abstract excerpt
BACKGROUND: Mutations in the SLC4A1 gene have been found to cause either autosomal dominant (AD) or autosomal recessive (AR) distal renal tubular acidosis (dRTA). The SLC4A1 mutations causing AD dRTA were reported in white patients, whereas those associated with AR dRTA were often found in Southeast Asia. Here, the authors report additional novel SLC4A1 mutations in 3 patients with AR dRTA from 2 unrelated Thai...
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