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

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 i...

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Detalles Bibliográficos
Autores principales: Park, Eujin, Phaymany, Vilaphone, Yi, Eun Sang, Phangmanixay, Sommanikhone, Cheong, Hae Il, Choi, Yong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5865059/
https://www.ncbi.nlm.nih.gov/pubmed/29573245
http://dx.doi.org/10.3346/jkms.2018.33.e95

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