Hemolytic anemia and distal renal tubular acidosis in two Indian patients homozygous for SLC4A1/AE1 mutation A858D

Familial distal renal tubular acidosis (dRTA) can be caused by mutations in the Cl(−)/HCO(3)(−) exchanger of the renal Type A intercalated cell, kidney AE1/SLC4A1. dRTA-associated AE1 mutations have been reported in families from North America, Europe, Thailand, Malaysia, Papua-New Guinea, Taiwan, a...

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Main Authors: Shmukler, Boris E., Kedar, Prabhakar S., Warang, Prashant, Desai, Mukesh, Madkaikar, Manisha, Ghosh, Kanjaksha, Colah, Roshan B., Alper, Seth L.
Formato: Artigo
Idioma:Inglês
Publicado em: 2010
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3517738/
https://ncbi.nlm.nih.gov/pubmed/20799361
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajh.21836
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