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Molecular mechanisms in Angelman syndrome: a survey of 93 patients.
Angelman syndrome (AS) results from a lack of maternal contribution from chromosome 15q11-13, arising from de novo deletion in most cases or rarely from uniparental disomy. These families are associated with a low recurrence risk. However, in a minority of families, more than one child is affected....
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| Autores principales: | , , , , , , |
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| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
1993
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1016595/ https://ncbi.nlm.nih.gov/pubmed/7905534 |
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