Genome-wide association study of Hirschsprung disease detects a novel low-frequency variant at the RET locus

Hirschsprung disease (HSCR) is a congenital disorder with a population incidence of ~1/5000 live births, defined by an absence of enteric ganglia along variable lengths of the colon. HSCR genome-wide association studies (GWAS) have found common associated variants at RET, SEMA3, and NRG1, but they s...

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Publicat a:Eur J Hum Genet
Autors principals: Fadista, João, Lund, Marie, Skotte, Line, Geller, Frank, Nandakumar, Priyanka, Chatterjee, Sumantra, Matsson, Hans, Granström, Anna Löf, Wester, Tomas, Salo, Perttu, Virtanen, Valtter, Carstensen, Lisbeth, Bybjerg-Grauholm, Jonas, Hougaard, David Michael, Pakarinen, Mikko, Perola, Markus, Nordenskjöld, Agneta, Chakravarti, Aravinda, Melbye, Mads, Feenstra, Bjarke
Format: Artigo
Idioma:Inglês
Publicat: Springer International Publishing 2018
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5891499/
https://ncbi.nlm.nih.gov/pubmed/29379196
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-017-0053-7
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