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Clinical Application of an Innovative Multiplex-Fluorescent-Labeled STRs Assay for Prader-Willi Syndrome and Angelman Syndrome

Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are two clinically distinct neurodevelopmental disorders caused by absence of paternally or maternally expressed imprinted genes on chr15q11.2-q13.3. Three mechanisms are known to be involved in the pathogenesis: microdeletions, uniparental diso...

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Detalles Bibliográficos
Autores principales: Zhang, Kaihui, Liu, Shu, Feng, Bing, Yang, Yali, Zhang, Haiyan, Dong, Rui, Liu, Yi, Gai, Zhongtao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4739598/
https://www.ncbi.nlm.nih.gov/pubmed/26841067
http://dx.doi.org/10.1371/journal.pone.0147824