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- Title
Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS.
- Authors
Bliek, Jet; Maas, Saskia M.; Ruijter, Jan M.; Hennekam, Raoul C.M.; Alders, Marielle; Westerveld, Andries; Mannens, Marcel M.A.M.
- Abstract
Describes the methylation patterns of KCNQ1OT1 and H19 in Beckwith-Wiedemann syndrome patients. Correlation between tumor risk and genotype; Different patient groups screened for CDKNIC mutations; Reliability of the method used to detect methylation defects; Imbalance in parental allelic contribution.
- Subjects
GENETIC toxicology; METHYLATION; GENETIC disorders; HUMAN chromosome abnormality diagnosis
- Publication
Human Molecular Genetics, 2001, Vol 10, Issue 5, p467
- ISSN
0964-6906
- Publication type
Article
- DOI
10.1093/hmg/10.5.467