Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease

Hirschsprung disease (HSCR, aganglionic megacolon) is a complex and heterogeneous disease with an incidence of 1 in 5000 live births. Despite the multifactorial determination of HSCR in the vast majority of cases, there is a monogenic subgroup for which private rare RET coding sequence mutations wit...

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Main Authors: Jannot, Anne-Sophie, Amiel, Jeanne, Pelet, Anna, Lantieri, Francesca, Fernandez, Raquel M, Verheij, Joke B G M, Garcia-Barcelo, Merce, Arnold, Stacey, Ceccherini, Isabella, Borrego, Salud, Hofstra, Robert M W, Tam, Paul K H, Munnich, Arnold, Chakravarti, Aravinda, Clerget-Darpoux, Françoise, Lyonnet, Stanislas
פורמט: Artigo
שפה:Inglês
יצא לאור: Nature Publishing Group 2012
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Article
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC3421120/
https://ncbi.nlm.nih.gov/pubmed/22395866
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.35
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