Novel compound heterozygous ATP6V1B1 mutations in a Chinese child patient with primary distal renal tubular acidosis: a case report

BACKGROUND: Distal renal tubular acidosis (dRTA) is a heterogeneous disorder characterized by normal anion gap metabolic acidosis. Autosomal recessive dRTA is usually caused by mutations occurring in ATP6V1B1 and ATP6V0A4 genes,encoding subunits B1 and a4 of apical H(+)-ATPase, respectively. The het...

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Detalles Bibliográficos
Autores principales: Zhao, Xiangzhong, Lu, Jingru, Gao, Yanxia, Wang, Xiaoling, Lang, Yanhua, Shao, Leping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6297984/
https://www.ncbi.nlm.nih.gov/pubmed/30558562
http://dx.doi.org/10.1186/s12882-018-1173-1

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