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RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease
BACKGROUND—Hirschsprung disease (HSCR), which may be sporadic or familial, occurs in 1:5000 live births and presents with functional intestinal obstruction secondary to aganglionosis of the hindgut. Germline mutations of the RET proto-oncogene are believed to account for up to 50% of familial cases...
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| Asıl Yazarlar: | , , , , , , , , , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
BMJ Group
2000
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1734658/ https://ncbi.nlm.nih.gov/pubmed/10922382 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.37.8.572 |
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