Mutation Conferring Apical-Targeting Motif on AE1 Exchanger Causes Autosomal Dominant Distal RTA

Mutations in SLC4A1 that mislocalize its product, the chloride/bicarbonate exchanger AE1, away from its normal position on the basolateral membrane of the α-intercalated cell cause autosomal dominant distal renal tubular acidosis (dRTA). We studied a family exhibiting dominant inheritance and define...

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Detalhes bibliográficos
Main Authors: Fry, Andrew C., Su, Ya, Yiu, Vivian, Cuthbert, Alan W., Trachtman, Howard, Karet Frankl, Fiona E.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Nephrology 2012
Assuntos:
Clinical Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3380654/
https://ncbi.nlm.nih.gov/pubmed/22518001
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1681/ASN.2012020112
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