A carregar...
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...
Na minha lista:
| Publicado no: | BMC Nephrol |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2018
|
| Assuntos: | |
| Acesso em linha: | 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 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|