Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract

Congenital anomalies of the kidney and urinary tract (CAKUT) account for approximately half of children with chronic kidney disease. CAKUT can be caused by monogenic mutations, however, data are lacking on their frequency. Genetic diagnosis has been hampered by genetic heterogeneity and lack of geno...

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Bibliografiset tiedot
Päätekijät: Hwang, Daw-Yang, Dworschak, Gabriel C., Kohl, Stefan, Saisawat, Pawaree, Vivante, Asaf, Hilger, Alina C., Reutter, Heiko M., Soliman, Neveen A., Bogdanovic, Radovan, Kehinde, Elijah O., Tasic, Velibor, Hildebrandt, Friedhelm
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 2014
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Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC4040148/
https://ncbi.nlm.nih.gov/pubmed/24429398
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ki.2013.508
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