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

Hereditary Cancer in Clinical Practice

Volumn 8, Issue 1, 2010, Pages

  van Riel, Els ^a   Ausems, Margreet G E M ^a   Hogervorst, Frans B L ^b   Kluijt, Irma ^b   van Gijn, Marielle E ^a   van Echtelt, Jeanne ^a   Scheidel Jacobse, Karen ^c   Hennekam, Eric F A M ^a   Stulp, Rein P ^d   Vos, Yvonne J ^d   Offerhaus, G Johan A ^a   Menko, Fred H ^e   Gille, Johan J P ^e  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b NETHERLANDS CANCER INSTITUTE   (Netherlands)

^c ST ANTONIUS HOSPITAL   (Netherlands)

^d UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^e VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARAGINE; HISTIDINE; MISMATCH REPAIR PROTEIN; PROTEIN MLH1;

ARTICLE; CONTROLLED STUDY; EXON; FAMILY; FOUNDER EFFECT; GENEALOGY; GENETIC ANALYSIS; HAPLOTYPE; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HUMAN; IMMUNOHISTOCHEMISTRY; MAJOR CLINICAL STUDY; MICROSATELLITE INSTABILITY; MISSENSE MUTATION; NETHERLANDS; NUCLEOTIDE SEQUENCE; PATHOGENICITY; PROTEIN EXPRESSION;

EID: 78449275529     PISSN: 17312302     EISSN: 18974287     Source Type: Journal    
DOI: 10.1186/1897-4287-8-7     Document Type: Article

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