A novel exonic rearrangement affecting MLH1 and the contiguous LRRFIP2 is a founder mutation in Portuguese Lynch syndrome families

Genetics in Medicine

Volumn 13, Issue 10, 2011, Pages 895-902

  Pinheiro, Manuela ^a,b   Pinto, Carla ^a,b   Peixoto, Ana ^a,b   Veiga, Isabel ^a,b   Mesquita, Bárbara ^a,b   Henrique, Rui ^a,b,c   Baptista, Manuela ^d   Fragoso, Maria ^e   Sousa, Olga ^a   Pereira, Helena ^a   Marinho, Carla ^f   Moreira Dias, Luis ^a   Teixeira, Manuel R ^a,b,c  

^a PORTUGUESE ONCOLOGY INSTITUTE   (Portugal)

^b Research Center of the Portuguese Oncology Institute   (Portugal)

^c UNIVERSITY OF PORTO   (Portugal)

^d Nephrology Department   (Portugal)

^e PORTUGUESE ONCOLOGY INSTITUTE   (Portugal)

^f Centro Hospitalar T mega e Sousa   (Portugal)

Author keywords

exonic rearrangement; founder mutation; LRRFIP2; Lynch syndrome; MLH1

Indexed keywords

PROTEIN DERIVATIVE; PROTEIN LRRFIP2; PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH6; UNCLASSIFIED DRUG;

ARTICLE; CONTROLLED STUDY; COST EFFECTIVENESS ANALYSIS; EXON; GENE DELETION; GENE FREQUENCY; GENE MUTATION; GENE REARRANGEMENT; GENETIC HETEROGENEITY; GENETIC IDENTIFICATION; GENOMICS; HAPLOTYPE; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HUMAN; MISMATCH NEGATIVITY; PORTUGAL;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADENOCARCINOMA; ADULT; BASE SEQUENCE; CARRIER PROTEINS; CHROMOSOME BREAKPOINTS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; EXONS; FOUNDER EFFECT; GENE REARRANGEMENT; HAPLOTYPES; HUMANS; MICROSATELLITE REPEATS; NUCLEAR PROTEINS; PEDIGREE; PHYLOGENY; POLYMORPHISM, SINGLE NUCLEOTIDE; PORTUGAL;

EID: 80053921751     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1097/GIM.0b013e31821dd525     Document Type: Article

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