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Article

A novel mutation pattern of kidney anion exchanger 1 gene in patients with distal renal tubular acidosis in Iran.

Iranian journal of kidney diseases - 1 May 2015

Hooman Nakysa, Otukesh Hassan, Fazilaty Hassan, Torktaz Ibrahim, Hosseini Rozita, Behnam Babak

Abstract excerpt

INTRODUCTION: Mutations of the anion exchanger 1 (AE1) gene encoding the kidney anion exchanger 1 can result in autosomal dominant or autosomal recessive form of distal renal tubular acidosis (DRTA). This study aimed to report deletion mutations of the AE1 and its impact on Iranian children with DRTA. MATERIALS AND METHODS: Twelve children with DRTA referred to Ali Asghar Children Hospital were investigated for...

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PMID: 25957428

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