MUTYH-associated polyposis - variability of the clinical phenotype in patients with biallelic and monoallelic MUTYH mutations and report on novel mutations

Clinical Genetics

Volumn 78, Issue 4, 2010, Pages 353-363

  Morak, M ^a,b   Laner, A ^b   Bacher, U ^c   Keiling, C ^b   Holinski Feder, E ^a,b  

^a UNIVERSITY OF MUNICH   (Germany)

^b Medical Genetic Center   (Germany)

^c UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

Author keywords

MUTYH mutation; Phenotype variability; Polyposis coli

Indexed keywords

ADENOMA; ADENOMATOUS POLYP; ADULT; ARTICLE; COLON POLYPOSIS; COLORECTAL CANCER; CONTROLLED STUDY; DNA EXTRACTION; FAMILY HISTORY; FEMALE; GENE; GENE MUTATION; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MUTYH GENE; PHENOTYPE; PRIORITY JOURNAL;

ADENOMATOUS POLYPOSIS COLI; AGE OF ONSET; ALLELES; BASE SEQUENCE; COHORT STUDIES; COLORECTAL NEOPLASMS; DNA GLYCOSYLASES; DNA MUTATIONAL ANALYSIS; GENES, APC; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MUTATION; MUTATION, MISSENSE; PHENOTYPE; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA;

EID: 77956412331     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01478.x     Document Type: Article

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