Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene.

All affected patients in four families with autosomal dominant familial renal tubular acidosis (dRTA) were heterozygous for mutations in their red cell HCO3-/Cl- exchanger, band 3 (AE1, SLC4A1) genes, and these mutations were not found in any of the nine normal family members studied. The mutation A...

Description complète

Enregistré dans:
Détails bibliographiques
Auteurs principaux: Bruce, L J, Cope, D L, Jones, G K, Schofield, A E, Burley, M, Povey, S, Unwin, R J, Wrong, O, Tanner, M J
Format: Artigo
Langue:Inglês
Publié: 1997
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC508352/
https://ncbi.nlm.nih.gov/pubmed/9312167
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Documents similaires