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Localization of a Gene for Autosomal Recessive Distal Renal Tubular Acidosis with Normal Hearing (rdRTA2) to 7q33-34

Failure of distal nephrons to excrete excess acid results in the “distal renal tubular acidoses” (dRTA). Early childhood features of autosomal recessive dRTA include severe metabolic acidosis with inappropriately alkaline urine, poor growth, rickets, and renal calcification. Progressive bilateral se...

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Detalhes bibliográficos
Main Authors: Karet, Fiona E., Finberg, Karin E., Nayir, Ahmet, Bakkaloglu, Aysin, Ozen, Seza, Hulton, Sally A., Sanjad, Sami A., Al-Sabban, Essam A., Medina, Juan F., Lifton, Richard P.
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 1999
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1288376/
https://ncbi.nlm.nih.gov/pubmed/10577919
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