Ontology highlight
ABSTRACT:
SUBMITTER: Bruce LJ
PROVIDER: S-EPMC508352 | biostudies-other | 1997 Oct
REPOSITORIES: biostudies-other
Bruce L J LJ Cope D L DL Jones G K GK Schofield A E AE Burley M M Povey S S Unwin R J RJ Wrong O O Tanner M J MJ
The Journal of clinical investigation 19971001 7
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 Arg589--> His was present in two families, while Arg589--> Cys and Ser613--> Phe changes were found in the other families. Linkage studies confirmed the co-segregation of the disease with a genetic mar ...[more]