COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans

INTRODUCTION: Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common cause of chronic kidney disease (~45%) that manifests before 30 years of age. The genetic locus containing COL4A1 (13q33–34) has been implicated in vesicoureteral reflux (VUR), but mutations in COL4A1 have...

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Pubblicato in:Hum Genet
Autori principali: Kitzler, Thomas M., Schneider, Ronen, Kohl, Stefan, Kolvenbach, Caroline M., Connaughton, Dervla M., Dai, Rufeng, Mann, Nina, Nakayama, Makiko, Majmundar, Amar J., Wu, Chen-Han W., Kari, Jameela A., Desoky, Sherif M. El, Senguttuvan, Prabha, Bogdanovic, Radovan, Stajic, Natasa, Valivullah, Zaheer, Lek, Monkol, Mane, Shrikant, Lifton, Richard P., Tasic, Velibor, Shril, Shirlee, Hildebrandt, Friedhelm
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2019
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6745245/
https://ncbi.nlm.nih.gov/pubmed/31230195
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-019-02042-4
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