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Whole exome sequencing and methylation-specific multiplex ligation-dependent probe amplification applied to identify Angelman syndrome due to paternal uniparental disomy in two unrelated patients
Angelman syndrome (AS) is a congenital neurodevelopmental disorder typically occurring due to functional defects of the UBE3A gene caused by uniparental disomy (UPD), translocation or single gene mutation. UBE3A gene exhibits imprinting expression, and only maternal inherited alleles express functio...
Gorde:
| Argitaratua izan da: | Mol Med Rep |
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| Egile Nagusiak: | , , , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
D.A. Spandidos
2019
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6625451/ https://ncbi.nlm.nih.gov/pubmed/31173236 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/mmr.2019.10339 |
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