Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 Confer Risk for Congenital Anomalies of the Kidney and Urinary Tract

Congenital anomalies of the kidney and urinary tract (CAKUT) account for 40–50% of chronic kidney disease that manifests in the first two decades of life. Thus far, 31 monogenic causes of isolated CAKUT have been described, explaining ~12% of cases. To identify additional CAKUT-causing genes, we per...

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發表在:Hum Genet
Main Authors: Hwang, Daw-Yang, Kohl, Stefan, Fan, Xueping, Vivante, Asaf, Chan, Stefanie, Dworschak, Gabriel C, Schulz, Julian, van Eerde, Albertien M, Hilger, Alina C, Gee, Heon Yung, Pennimpede, Tracie, Herrmann, Bernhard G, van de Hoek, Glenn, Renkema, Kirsten Y, Schell, Christoph, Huber, Tobias B, Reutter, Heiko M, Soliman, Neveen A, Stajic, Natasa, Bogdanovic, Radovan, Kehinde, Elijah O, Lifton, Richard P, Tasic, Velibor, Lu, Weining, Hildebrandt, Friedhelm
格式: Artigo
語言:Inglês
出版: 2015
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Article
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC4497857/
https://ncbi.nlm.nih.gov/pubmed/26026792
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-015-1570-5
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