Aberrant splicing caused by a MLH1 splice donor site mutation found in a young Japanese patient with Lynch syndrome

Familial Cancer

Volumn 11, Issue 4, 2012, Pages 559-564

  Takahashi, Masanobu ^a   Furukawa, Yoichi ^b   Shimodaira, Hideki ^a   Sakayori, Masato ^c   Moriya, Takuya ^d   Moriya, Yoshihiro ^e   Nakamura, Yusuke ^b   Ishioka, Chikashi ^a  

^a TOHOKU UNIVERSITY HOSPITAL   (Japan)

^b THE UNIVERSITY OF TOKYO   (Japan)

^c Miyagi Cancer Center   (Japan)

^d TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^e NATIONAL CANCER CENTER HOSPITAL   (Japan)

Author keywords

Aberrant splicing; Intronic mutation; Lynch syndrome; MLH1

Indexed keywords

PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH6;

ADULT; ARTICLE; CARCINOGENICITY; CASE REPORT; GENE LOCUS; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HETEROZYGOTE; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; INTRON; JAPANESE; MALE; MISMATCH REPAIR; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN EXPRESSION; RNA SPLICING; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SPLICE ACCEPTOR SITE; SPLICE DONOR SITE;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADULT; AGED; ASIAN CONTINENTAL ANCESTRY GROUP; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HUMANS; IMMUNOENZYME TECHNIQUES; MALE; MIDDLE AGED; NUCLEAR PROTEINS; PEDIGREE; PROGNOSIS; RNA SPLICE SITES;

EID: 84870426150     PISSN: 13899600     EISSN: 15737292     Source Type: Journal    
DOI: 10.1007/s10689-012-9547-1     Document Type: Article

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