Article
Transcripts with splicings of exons 15 and 16 of the hMLH1 gene in normal lymphocytes: implications in RNA-based mutation screening of hereditary non-polyposis colorectal cancer.
European journal of cancer (Oxford, England : 1990) - 1 May 1998
Palmirotta R, Verì M C, Curia M C, Aceto G, D'Amico F, Esposito D L, Arcuri P, Mariani-Costantini R, Messerini L, Mori S, Cama A, Battista P
Abstract excerpt
Germline mutations of the hMLH1 gene are estimated to account for a large fraction of kindreds affected by hereditary non-polyposis colorectal cancer (HNPCC). In a significant number of cases, hMLH1 mutations result in the expression of truncated proteins. We report here two novel alternatively s...
Topics
- Adaptor Proteins, Signal Transducing
- Alternative Splicing
- Carrier Proteins
- Colorectal Neoplasms, Hereditary Nonpolyposis
- Exons
- Humans
- Lymphocytes
- MutL Protein Homolog 1
- Mutation
- Neoplasm Proteins
- Nuclear Proteins
- Polymerase Chain Reaction
- Sequence Analysis