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...

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Bibliografiska uppgifter
Huvudupphovsmän: Bruce, L J, Cope, D L, Jones, G K, Schofield, A E, Burley, M, Povey, S, Unwin, R J, Wrong, O, Tanner, M J
Materialtyp: Artigo
Språk:Inglês
Publicerad: 1997
Ämnen:
Research Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC508352/
https://ncbi.nlm.nih.gov/pubmed/9312167
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