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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Auteurs principaux: 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.
Format: Artigo
Langue:Inglês
Publié: The American Society of Human Genetics 1999
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Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1288376/
https://ncbi.nlm.nih.gov/pubmed/10577919
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