Frequency and parental origin of de novo APC mutations in familial adenomatous polyposis

European Journal of Human Genetics

Volumn 12, Issue 1, 2004, Pages 52-58

  Aretz, Stefan ^a   Uhlhaas, Siegfried ^a   Caspari, Reiner ^a   Mangold, Elisabeth ^a   Pagenstecher, Constanze ^a   Propping, Peter ^a   Friedl, Waltraut ^a  

^a UNIVERSITY OF BONN   (Germany)

Author keywords

1309; APC; de novo mutations; Familial adenomatous polposis; FAP; Parental origin

Indexed keywords

ADENINE; APC PROTEIN; GUANINE;

ADENOMATOUS POLYP; ARTICLE; BASE PAIRING; CHROMOSOME DELETION; CODON; CONTROLLED STUDY; EXTRACHROMOSOMAL INHERITANCE; FAMILIAL DISEASE; FAMILY HISTORY; FREQUENCY ANALYSIS; GENE DELETION; GERM LINE; HAPLOTYPE; HETERODUPLEX ANALYSIS; HUMAN; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; NUCLEIC ACID BASE SUBSTITUTION; PATERNALISM; PRIORITY JOURNAL; SEX DIFFERENCE; SINGLE STRAND CONFORMATION POLYMORPHISM;

ADENOMATOUS POLYPOSIS COLI; DNA MUTATIONAL ANALYSIS; DNA, NEOPLASM; FEMALE; GENE FREQUENCY; GENES, APC; GERM-LINE MUTATION; HUMANS; MALE; MUTATION; PARENTS; PEDIGREE; SEQUENCE DELETION;

EID: 0842345574     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201088     Document Type: Article

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