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Article

Primary Autosomal Recessive Distal Renal Tubular Acidosis Caused by a Common Homozygous SLC4A1 Mutation in Two Lao Families.

Journal of Korean medical science - 26 Mar 2018

Park Eujin, Phaymany Vilaphone, Yi Eun Sang, Phangmanixay Sommanikhone, Cheong Hae Il, Choi Yong

Abstract excerpt

Primary distal renal tubular acidosis (dRTA) caused by mutations of the SLC4A1 gene, which encodes for erythroid and kidney isoforms of anion exchanger, shows marked difference in inheritance patterns and clinical features in different parts of the world. While the disease shows autosomal dominant inheritance without any red cell morphological abnormalities in the temperate countries, it is almost invariably...

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Share to Acidosis, Renal Tubular
Share to Anion Exchange Protein 1, Erythrocyte

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Child, Preschool

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Identifiers

PMID: 29573245
DOI: 10.3346/jkms.2018.33.e95
PMCID: PMC5865059

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