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...

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Detalles Bibliográficos
Autores principales: Li, Haibei, Yang, Haiqi, Lv, Nan, Ma, Caiyun, Li, Jingjie, Shang, Qing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2019
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6625451/
https://www.ncbi.nlm.nih.gov/pubmed/31173236
http://dx.doi.org/10.3892/mmr.2019.10339

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