A novel SYBR-based duplex qPCR for the detection of gene dosage: detection of an APC large deletion in a familial adenomatous polyposis patient with an unusual phenotype

BMC Medical Genetics

Volumn 13, Issue , 2012, Pages

  Torrezan, Giovana T ^a   da Silva, Felipe Cavalcanti C ^a   Krepischi, Ana Cristina V ^a,b   dos Santos, Érika Maria M ^a   Rossi, Benedito M ^c   Carraro, Dirce M ^a,b  

^a A C CAMARGO CANCER CENTER   (Brazil)

^b National Institute of Science and Technology in Oncogenomics (INCITO)   (Brazil)

^c BARRETOS CANCER HOSPITAL   (Brazil)

Author keywords

APC whole gene deletion; Familial adenomatous polyposis; Gene dosage; Quantitative PCR

Indexed keywords

APC PROTEIN; ATM PROTEIN; BRCA1 PROTEIN; HPRT1 PROTEIN; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CANCER STAGING; CASE REPORT; CHROMOSOME 5Q; CLINICAL ARTICLE; COLORECTAL CANCER; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; FAMILIAL COLON POLYPOSIS; FEMALE; GENE AMPLIFICATION; GENE DELETION; GENE DOSAGE; GENE EXPRESSION; GENE MAPPING; GENE REARRANGEMENT; GENE SEQUENCE; GENE TARGETING; GENETIC ANALYSIS; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN TISSUE; MALE; MELTING POINT; MICROARRAY ANALYSIS; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PROCTOCOLECTOMY; RELIABILITY; SINGLE NUCLEOTIDE POLYMORPHISM;

ADENOMATOUS POLYPOSIS COLI; ADENOMATOUS POLYPOSIS COLI PROTEIN; ADULT; CHROMOSOME MAPPING; EXONS; FEMALE; GENE DOSAGE; GENE REARRANGEMENT; HUMANS; INTRONS; MALE; ORGANIC CHEMICALS; POLYMERASE CHAIN REACTION; SEQUENCE DELETION;

EID: 84866764943     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-13-55     Document Type: Article

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