Molecular mechanisms of autosomal dominant and recessive distal renal tubular acidosis caused by SLC4A1 (AE1) mutations

Mutations of SLC4A1 (AE1) encoding the kidney anion (Cl(−)/HCO(3)(−)) exchanger 1 (kAE1 or band 3) can result in either autosomal dominant (AD) or autosomal recessive (AR) distal renal tubular acidosis (dRTA). The molecular mechanisms associated with SLC4A1 mutations resulting in these different mod...

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Detalles Bibliográficos
Autores principales: Yenchitsomanus, Pa-thai, Kittanakom, Saranya, Rungroj, Nanyawan, Cordat, Emmanuelle, Reithmeier, Reinhart A F
Formato: Texto
Lenguaje:English
Publicado: Library Publishing Media 2005
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2702069/
https://www.ncbi.nlm.nih.gov/pubmed/19565014

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