Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations

Renal agenesis and hypodysplasia (RHD) are major causes of pediatric chronic kidney disease and are highly genetically heterogeneous. We conducted whole-exome sequencing in 202 case subjects with RHD and identified diagnostic mutations in genes known to be associated with RHD in 7/202 case subjects....

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Sanna-Cherchi, Simone, Khan, Kamal, Westland, Rik, Krithivasan, Priya, Fievet, Lorraine, Rasouly, Hila Milo, Ionita-Laza, Iuliana, Capone, Valentina P., Fasel, David A., Kiryluk, Krzysztof, Kamalakaran, Sitharthan, Bodria, Monica, Otto, Edgar A., Sampson, Matthew G., Gillies, Christopher E., Vega-Warner, Virginia, Vukojevic, Katarina, Pediaditakis, Igor, Makar, Gabriel S., Mitrotti, Adele, Verbitsky, Miguel, Martino, Jeremiah, Liu, Qingxue, Na, Young-Ji, Goj, Vinicio, Ardissino, Gianluigi, Gigante, Maddalena, Gesualdo, Loreto, Janezcko, Magdalena, Zaniew, Marcin, Mendelsohn, Cathy Lee, Shril, Shirlee, Hildebrandt, Friedhelm, van Wijk, Joanna A.E., Arapovic, Adela, Saraga, Marijan, Allegri, Landino, Izzi, Claudia, Scolari, Francesco, Tasic, Velibor, Ghiggeri, Gian Marco, Latos-Bielenska, Anna, Kiryluk, Anna-Materna, Mane, Shrikant, Goldstein, David B., Lifton, Richard P., Katsanis, Nicholas, Davis, Erica E., Gharavi, Ali G.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5673636/
https://ncbi.nlm.nih.gov/pubmed/29100090
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2017.09.018
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