The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions

NLRP7 is a major gene responsible for recurrent hydatidiform moles. Here, we report 11 novel NLRP7 protein truncating variants, of which five deletions of more than 1-kb. We analyzed the transcriptional consequences of four variants. We demonstrate that one large homozygous deletion removes NLRP7 tr...

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Publicado no:Eur J Hum Genet
Main Authors: Reddy, Ramesh, Nguyen, Ngoc M P, Sarrabay, Guillaume, Rezaei, Maryam, Rivas, Mayra C G, Kavasoglu, Aysenur, Berkil, Hakan, Elshafey, Alaa, Nunez, Kristin P, Dreyfus, Hélène, Philippe, Merviel, Hadipour, Zahra, Durmaz, Asude, Eaton, Erin E, Schubert, Brittany, Ulker, Volkan, Hadipour, Fatemeh, Ahmadpour, Fatemeh, Touitou, Isabelle, Fardaei, Majid, Slim, Rima
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5027696/
https://ncbi.nlm.nih.gov/pubmed/26956250
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2016.9
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