Detailed characterization of MLH1 p.D41H and p.N710D variants coexisting in a Lynch syndrome family with conserved MLH1 expression tumors. [electronic resource]
Producer: 20160202Description: 543-8 p. digitalISSN:- 1399-0004
- Adaptor Proteins, Signal Transducing -- chemistry
- Adult
- Age of Onset
- Amino Acid Substitution
- Binding Sites
- Codon
- Colorectal Neoplasms, Hereditary Nonpolyposis -- diagnosis
- Family
- Female
- Gene Expression
- Genetic Variation
- Heterozygote
- Humans
- Male
- Middle Aged
- Models, Molecular
- MutL Protein Homolog 1
- Nuclear Proteins -- chemistry
- Pedigree
- Protein Conformation
- Protein Interaction Domains and Motifs
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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