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Different mechanisms and recurrence risks of imprinting defects in Angelman syndrome.

Angelman syndrome (AS) is a neurogenetic disorder that appears to be caused by the loss of function of an imprinted gene expressed from maternal chromosome 15 only. Approximately 6% of patients have a paternal imprint on the maternal chromosome. In the few cases, this is due to an inherited microdel...

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Autors principals: Bürger, J, Buiting, K, Dittrich, B, Gross, S, Lich, C, Sperling, K, Horsthemke, B, Reis, A
Format: Artigo
Idioma:Inglês
Publicat: 1997
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1715864/
https://ncbi.nlm.nih.gov/pubmed/9245988
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