Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1 genes

BACKGROUND: Primary distal renal tubular acidosis (dRTA) caused by mutations in the genes that codify for the H + −ATPase pump subunits is a heterogeneous disease with a poor phenotype-genotype correlation. Up to now, large cohorts of dRTA Tunisian patients have not been analyzed, and molecular defe...

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Detalles Bibliográficos
Autores principales: Elhayek, Donia, Perez de Nanclares, Gustavo, Chouchane, Slaheddine, Hamami, Saber, Mlika, Adnène, Troudi, Monia, Leban, Nadia, Ben Romdane, Wafa, Gueddiche, Mohamed Neji, El Amri, Féthi, Mrabet, Samir, Ben Chibani, Jemni, Castaño, Luis, Haj Khelil, Amel, Ariceta, Gema
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4225572/
https://www.ncbi.nlm.nih.gov/pubmed/24252324
http://dx.doi.org/10.1186/1471-2350-14-119

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4225572/
https://www.ncbi.nlm.nih.gov/pubmed/24252324
http://dx.doi.org/10.1186/1471-2350-14-119

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