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Disruption of an exon splicing enhancer in exon 3 of MLH1 is the cause of HNPCC in a Quebec family
BACKGROUND: A 3 bp deletion located at the 5′ end of exon 3 of MLH1, resulting in deletion of exon 3 from RNA, was recently identified. HYPOTHESIS: That this mutation disrupts an exon splicing enhancer (ESE) because it occurs in a purine‐rich sequence previously identified as an ESE in other genes,...
Gorde:
| Egile Nagusiak: | , , , , |
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| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
BMJ Group
2006
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2564635/ https://ncbi.nlm.nih.gov/pubmed/15923275 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2005.031997 |
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