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

<p>Abstract</p> <p>Background</p> <p>An unclassified variant (UV) in exon 1 of the <it>MLH1 </it>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 <it>M...

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Principais autores:	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:	Artigo
Idioma:	Inglês
Publicado em:	BMC 2010-08-01
coleção:	Hereditary Cancer in Clinical Practice
Acesso em linha:	http://www.hccpjournal.com/content/8/1/7
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