Recurrent CNVs and SNVs at the NPHP1 Locus Contribute Pathogenic Alleles to Bardet-Biedl Syndrome

Homozygosity for a recurrent 290 kb deletion of NPHP1 is the most frequent cause of isolated nephronophthisis (NPHP) in humans. A deletion of the same genomic interval has also been detected in individuals with Joubert syndrome (JBTS), and in the mouse, Nphp1 interacts genetically with Ahi1, a known...

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Главные авторы: Lindstrand, Anna, Davis, Erica E., Carvalho, Claudia M.B., Pehlivan, Davut, Willer, Jason R., Tsai, I-Chun, Ramanathan, Subhadra, Zuppan, Craig, Sabo, Aniko, Muzny, Donna, Gibbs, Richard, Liu, Pengfei, Lewis, Richard A., Banin, Eyal, Lupski, James R., Clark, Robin, Katsanis, Nicholas
Формат: Artigo
Язык:Inglês
Опубликовано: Elsevier 2014
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Report
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC4067552/
https://ncbi.nlm.nih.gov/pubmed/24746959
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2014.03.017
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