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Novel Nonsense Mutation in the Na+/HCO3 - Cotransporter Gene (SLC4A4) in a Patient with Permanent Isolated Proximal Renal Tubular Acidosis and Bilateral Glaucoma

1 Apr 2001

Abstract excerpt

Permanent isolated proximal renal tubular acidosis (pRTA) with ocular abnormalities is a systemic disease involving short stature, isolated pRTA, mental retardation, and ocular abnormalities. Kidney Na+/HCO3- cotransporter (kNBC1) cDNA from peripheral lymphocytes from a patient with permanent isolated pRTA and bilateral glaucoma was screened, and a novel homozygous mutation, namely a cytosine-to-thymine...

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PMID: 11274232
DOI: 10.1681/asn.v124713

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