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Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes.

The D15S9 and D15S63 loci in the Prader-Willi/Angelman syndrome region on chromosome 15 are subject to parent-of-origin-specific DNA methylation. We have found two Prader-Willi syndrome families in which the patients carry a maternal methylation imprint on the paternal chromosome. In one of these fa...

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Détails bibliographiques
Auteurs principaux: Reis, A., Dittrich, B., Greger, V., Buiting, K., Lalande, M., Gillessen-Kaesbach, G., Anvret, M., Horsthemke, B.
Format: Artigo
Langue:Inglês
Publié: 1994
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Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1918261/
https://ncbi.nlm.nih.gov/pubmed/8178815
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