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The Germline MLH1 K618A Variant and Susceptibility to Lynch Syndrome-Associated Tumors
Missense variants discovered during sequencing of cancer susceptibility genes can be problematic for clinical interpretation. MLH1 K618A, which results from a 2-bp alteration (AAG→GCG) leading to a substitution of lysine to alanine in codon 618, has variously been interpreted as a pathogenic mutatio...
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| Publicado no: | J Mol Diagn |
|---|---|
| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
American Society for Investigative Pathology
2012
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4432490/ https://ncbi.nlm.nih.gov/pubmed/22426235 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jmoldx.2012.01.006 |
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