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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: American Society of Nephrology 2014
Gaiak:
Brief Communications
Sarrera elektronikoa: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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