Refining the role of pms2 in lynch syndrome: Germline mutational analysis improved by comprehensive assessment of variants

Journal of Medical Genetics

Volumn 50, Issue 8, 2013, Pages 552-563

  Borràs, Ester ^a   Pineda, Marta ^a   Cadiñanos, Juan ^b   del Valle, Jesús ^a   Brieger, Angela ^c   Hinrichsen, Inga ^c   Cabanillas, Ruben ^b   Navarro, Matilde ^a   Brunet, Joan ^d   Sanjuan, Xavier ^e   Musulen, Eva ^f   van der Klift, Helen ^g   Lázaro, Conxi ^a   Plotz, Guido ^c   Blanco, Ignacio ^a   Capellá, Gabriel ^a  

^a BELLVITGE BIOMEDICAL RESEARCH INSTITUTE IDIBELL   (Spain)

^b IMOMA   (Spain)

^c GOETHE UNIVERSITY   (Germany)

^d CATALAN INSTITUTE OF ONCOLOGY   (Spain)

^e HOSPITAL UNIVERSITARI DE BELLVITGE   (Spain)

^f HOSPITAL UNIVERSITARI GERMANS TRIAS I PUJOL   (Spain)

^g LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; MESSENGER RNA; MISMATCH REPAIR PROTEIN PMS2;

ADULT; AGED; ARTICLE; CONTROLLED STUDY; FEMALE; GENE EXPRESSION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTATIONAL ANALYSIS; PATHOGENESIS; PATHOGENICITY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RNA PROCESSING;

EID: 84883192504     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2012-101511     Document Type: Article

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