Angelman syndrome associated with an inversion of chromosome 15q11.2q24.3.

Angelman syndrome (AS) most frequently results from large (> or = 5 Mb) de novo deletions of chromosome 15q11-q13. The deletions are exclusively of maternal origin, and a few cases of paternal uniparental disomy of chromosome 15 have been reported. The latter finding indicates that AS is caused b...

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Détails bibliographiques
Auteurs principaux: Greger, V, Knoll, J H, Wagstaff, J, Woolf, E, Lieske, P, Glatt, H, Benn, P A, Rosengren, S S, Lalande, M
Format: Artigo
Langue:Inglês
Publié: 1997
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1712510/
https://ncbi.nlm.nih.gov/pubmed/9042916
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