Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: A different spectrum of mutations?

BMC Medical Genetics

Volumn 10, Issue , 2009, Pages

  Gómez Fernández, Nuria ^a   Castellví Bel, Sergi ^b   Fernández Rozadilla, Ceres ^a   Balaguer, Francesc ^b   Muñoz, Jenifer ^a   Madrigal, Irene ^b   Milà, Montserrat ^b   Graña, Begoña ^c   Vega, Ana ^a   Castells, Antoni ^b   Carracedo, Ángel ^a   Ruiz Ponte, Clara ^a  

^a UNIVERSITY OF SANTIAGO DE COMPOSTELA   (Spain)

^b HOSPITAL CLÍNIC   (Spain)

^c HOSPITAL CLÍNICO UNIVERSITARIO   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

APC PROTEIN; CYSTEINE; DNA GLYCOSYLASE MUTY; GENOMIC DNA; TYROSINE; DNA GLYCOSYLTRANSFERASE;

ADENOMATOUS POLYP; ADOLESCENT; ADULT; AGED; ARTICLE; CODON; COLORECTAL ADENOMA; ETHNIC GROUP; FAMILIAL CANCER; FAMILY HISTORY; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE FREQUENCY; GENE MUTATION; GENE REARRANGEMENT; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; GERMLINE MUTATION; HUMAN; MAJOR CLINICAL STUDY; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTATION RATE; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; ONSET AGE; PHENOTYPE; POINT MUTATION; POPULATION RESEARCH; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM; SPAIN; COLON POLYPOSIS; COMPARATIVE STUDY; DNA SEQUENCE; FLUORESCENCE IN SITU HYBRIDIZATION; GENETICS; MIDDLE AGED; MUTATION; NUCLEIC ACID AMPLIFICATION; TUMOR SUPPRESSOR GENE;

ADENOMATOUS POLYPOSIS COLI; ADOLESCENT; ADULT; DNA GLYCOSYLASES; ETHNIC GROUPS; FEMALE; GENE FREQUENCY; GENES, APC; GERM-LINE MUTATION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MIDDLE AGED; NUCLEIC ACID AMPLIFICATION TECHNIQUES; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION; SPAIN; YOUNG ADULT;

EID: 67649836973     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-10-57     Document Type: Article

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