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Mutation analysis and audiologic assessment in six Chinese children with primary distal renal tubular acidosis.

Renal failure - 1 Sept 2014

Gao Yanxia, Xu Yan, Li Qingyang, Lang Yanhua, Dong Qian, Shao Leping

Abstract excerpt

The objective of this study is to identify ATP6V1B1, ATP6V0A4 and SLC4A1 genes mutations and assess audiologic characteristics in six Chinese children with primary distal renal tubular acidosis from four unrelated families between the ages of 2 and 13 years. Both ATP6V0A4 and ATP6V1B1 genes were preferentially screened in all index cases by direct sequence analysis. If inconclusive then SLC4A1 gene should be...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24975934
DOI: 10.3109/0886022X.2014.930332

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