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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...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , , , , , , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
BMJ Group
2006
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| Θέματα: | |
| Διαθέσιμο Online: | 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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