Mild Recessive Mutations in Six Fraser Syndrome–Related Genes Cause Isolated Congenital Anomalies of the Kidney and Urinary Tract

Congenital anomalies of the kidney and urinary tract (CAKUT) account for approximately 40% of children with ESRD in the United States. Hitherto, mutations in 23 genes have been described as causing autosomal dominant isolated CAKUT in humans. However, >90% of cases of isolated CAKUT still remain...

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Main Authors: Kohl, Stefan, Hwang, Daw-Yang, Dworschak, Gabriel C., Hilger, Alina C., Saisawat, Pawaree, Vivante, Asaf, Stajic, Natasa, Bogdanovic, Radovan, Reutter, Heiko M., Kehinde, Elijah O., Tasic, Velibor, Hildebrandt, Friedhelm
פורמט: Artigo
שפה:Inglês
יצא לאור: American Society of Nephrology 2014
נושאים:
Brief Communications
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC4147986/
https://ncbi.nlm.nih.gov/pubmed/24700879
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1681/ASN.2013101103
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