APC rearrangements in familial adenomatous polyposis: heterogeneity of deletion lengths and breakpoint sequences underlies similar phenotypes

Familial Cancer

Volumn 14, Issue 1, 2015, Pages 41-49

  Quadri, Marialuisa ^a,b   Vetro, Annalisa ^c   Gismondi, Viviana ^d   Marabelli, Monica ^a   Bertario, Lucio ^e   Sala, Paola ^e   Varesco, Liliana ^d   Zuffardi, Orsetta ^a   Ranzani, Guglielmina N ^a  

^a UNIVERSITY OF PAVIA   (Italy)

^b ERASMUS MEDICAL CENTER   (Netherlands)

^c FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^d UNIVERSITY OF GENOA   (Italy)

^e IRCCS   (Italy)

Author keywords

APC gene; Familial adenomatous polyposis; Fine mapping; Large deletions; Phenotype

Indexed keywords

APC PROTEIN;

ADULT; ARTICLE; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; EXON; FAMILIAL COLON POLYPOSIS; FEMALE; GENE CLUSTER; GENE DELETION; GENE LOCATION; GENE LOCUS; GENE SEQUENCE; GENETIC HETEROGENEITY; GENETIC RECOMBINATION; GENOTYPE PHENOTYPE CORRELATION; HAPLOINSUFFICIENCY; HUMAN; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PHENOTYPE; PRIORITY JOURNAL; COLON POLYPOSIS; GENETICS; MOLECULAR GENETICS; MULTIPLEX POLYMERASE CHAIN REACTION; NUCLEOTIDE SEQUENCE; PATHOLOGY; POLYMERASE CHAIN REACTION; TUMOR SUPPRESSOR GENE;

ADENOMATOUS POLYPOSIS COLI; ADULT; BASE SEQUENCE; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; GENES, APC; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MULTIPLEX POLYMERASE CHAIN REACTION; PHENOTYPE; POLYMERASE CHAIN REACTION; SEQUENCE DELETION;

EID: 84943015455     PISSN: 13899600     EISSN: 15737292     Source Type: Journal    
DOI: 10.1007/s10689-014-9750-3     Document Type: Article

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