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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...
में बचाया:
| मुख्य लेखकों: | , , , , , , , , |
|---|---|
| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
1997
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| विषय: | |
| ऑनलाइन पहुंच: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1712510/ https://ncbi.nlm.nih.gov/pubmed/9042916 |
| टैग : |
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