Founder effect of a pathogenic MSH2 mutation identified in Spanish families with Lynch syndrome

Clinical Genetics

Volumn 78, Issue 2, 2010, Pages 186-190

  Menendez M ^a   Castellvi Bel S ^b   Pineda, M ^a   de Cid, R ^c   Munoz J ^b   Gonzaleza S ^a   Teule A ^a   Balaguer, F ^b   Cajal, T Ramón ^d   Reñé, Josep M ^e   Blanco, I ^a   Castells, A ^b   Capella G ^a  

^a CATALAN INSTITUTE OF ONCOLOGY   (Spain)

^b UNIVERSITY OF BARCELONA   (Spain)

^c DIF   (France)

^d HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

^e HOSPITAL UNIVERSITARI ARNAU DE VILANOVA   (Spain)

Author keywords

Founder mutation; Lynch syndrome; Mismatch repair mutation; Msh2

Indexed keywords

GENOMIC DNA; PROTEIN MSH2; TELOMERASE; MSH2 PROTEIN, HUMAN;

ARTICLE; CONTROLLED STUDY; FAMILY; FOUNDER EFFECT; HAPLOTYPE; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HIGH RISK POPULATION; HUMAN; MAJOR CLINICAL STUDY; MICROSATELLITE MARKER; MUTATION; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN EXPRESSION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA PROCESSING; SINGLE STRAND CONFORMATION POLYMORPHISM; ALTERNATIVE RNA SPLICING; EXON; FEMALE; GENETICS; MALE; PEDIGREE; SPAIN;

ALTERNATIVE SPLICING; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; EXONS; FAMILY; FEMALE; FOUNDER EFFECT; HAPLOTYPES; HUMANS; MALE; MUTS HOMOLOG 2 PROTEIN; PEDIGREE; SPAIN;

EID: 77957346741     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2009.01346.x     Document Type: Article

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