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Novel deletion of the E3A ubiquitin protein ligase gene detected by multiplex ligation-dependent probe amplification in a patient with Angelman syndrome
Angelman syndrome (AS) is a severe neurobehavioural disorder caused by failure of expression of the maternal copy of the imprinted domain located on 15q11-q13. There are different mechanisms leading to AS: maternal microdeletion, uniparental disomy, defects in a putative imprinting centre, mutations...
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| Main Authors: | , , , , , , , , , , , |
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| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Korean Society for Biochemistry and Molecular Biology
2010
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3015158/ https://ncbi.nlm.nih.gov/pubmed/21072004 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3858/emm.2010.42.12.087 |
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