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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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| Publicado en: | BMC Nephrol |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
BioMed Central
2018
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6297984/ https://ncbi.nlm.nih.gov/pubmed/30558562 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12882-018-1173-1 |
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