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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: | , , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
1997
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1715864/ https://ncbi.nlm.nih.gov/pubmed/9245988 |
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