Mutations of the RET gene in isolated and syndromic Hirschsprung's disease in human disclose major and modifier alleles at a single locus

BACKGROUND: In Hirschsprung's disease (HSCR), a hypomorphic allele of a major gene, RET, accounts for most isolated (non‐syndromic) cases, along with other autosomal susceptibility loci under a multiplicative model. However, some syndromic forms of HSCR are monogenic entities, for which the dis...

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Главные авторы: de Pontual, L, Pelet, A, Trochet, D, Jaubert, F, Espinosa‐Parrilla, Y, Munnich, A, Brunet, J‐F, Goridis, C, Feingold, J, Lyonnet, S, Amiel, J
Формат: Artigo
Язык:Inglês
Опубликовано: BMJ Group 2006
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Original Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC2649010/
https://ncbi.nlm.nih.gov/pubmed/16443855
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2005.040113
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