A novel pathogenic MLH1 missense mutation, c.112A > C, p.Asn38His, in six families with Lynch syndrome

BACKGROUND: An unclassified variant (UV) in exon 1 of the MLH1 gene, c.112A > C, p.Asn38His, was found in six families who meet diagnostic criteria for Lynch syndrome. The pathogenicity of this variant was unknown. We aim to elucidate the pathogenicity of this MLH1 variant in order to counsel the...

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Detalles Bibliográficos
Autores principales: van Riel, Els, Ausems, Margreet GEM, Hogervorst, Frans BL, Kluijt, Irma, van Gijn, Marielle E, van Echtelt, Jeanne, Scheidel-Jacobse, Karen, Hennekam, Eric FAM, Stulp, Rein P, Vos, Yvonne J, Offerhaus, G Johan A, Menko, Fred H, Gille, Johan JP
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2010
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2927519/
https://www.ncbi.nlm.nih.gov/pubmed/20704743
http://dx.doi.org/10.1186/1897-4287-8-7

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