טוען...
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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| Main Authors: | , , , , , , , , , , |
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| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
BMJ Group
2006
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| נושאים: | |
| גישה מקוונת: | 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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