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...

Description complète

Enregistré dans:
Détails bibliographiques
Auteurs principaux: 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
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2010
Sujets:
Research
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2927519/
https://ncbi.nlm.nih.gov/pubmed/20704743
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1897-4287-8-7
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Documents similaires