A unique MSH2 exon 8 deletion accounts for a major portion of all mismatch repair gene mutations in Lynch syndrome families of Sardinian origin

European Journal of Human Genetics

Volumn 21, Issue 2, 2013, Pages 154-161

  Borelli, Iolanda ^a,b   Barberis, Marco A ^b   Spina, Francesca ^c   Cavalchini, Guido C Casalis ^b   Vivanet, Caterina ^c   Balestrino, Luisa ^c   Micheletti, Monica ^b   Allavena, Anna ^a   Sala, Paola ^d   Carcassi, Carlo ^c,e   Pasini, Barbara ^a,b  

^a UNIVERSITY OF TURIN   (Italy)

^b AOU San Giovanni Battista di Torino   (Italy)

^c SC Medical Genetics   (Italy)

^d INT   (Italy)

^e UNIVERSITY OF CAGLIARI   (Italy)

Author keywords

founder effect; Lynch syndrome; MSH2 deletions; Sardinian population

Indexed keywords

MISMATCH REPAIR PROTEIN; PROTEIN MSH2;

ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; EXON; GENE DELETION; GENE MUTATION; GENETIC SCREENING; HAPLOTYPE; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HUMAN; HUMAN TISSUE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA MISMATCH REPAIR; EXONS; FOUNDER EFFECT; GENETIC TESTING; GERM-LINE MUTATION; HAPLOTYPES; HUMANS; ITALY; MUTS HOMOLOG 2 PROTEIN; PEDIGREE; SEQUENCE DELETION;

EID: 84872501806     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.150     Document Type: Article

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