Clinical Utility of Methylation-Specific Multiplex Ligation-Dependent Probe Amplification for the Diagnosis of Prader–Willi Syndrome and Angelman Syndrome

BACKGROUND: Prader–Willi syndrome (PWS) and Angelman syndrome (AS) are genomic imprinting disorders that are mainly caused by a deletion on 15q11-q13, the uniparental disomy of chromosome 15, or an imprinting defect. We evaluated the utility of methylation-specific multiplex ligation-dependent probe...

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Detalles Bibliográficos
Autores principales: Kim, Boram, Park, Yongsook, Cho, Sung Im, Kim, Man Jin, Chae, Jong-Hee, Kim, Ji Yeon, Seong, Moon-Woo, Park, Sung Sup
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Society for Laboratory Medicine 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8368237/
https://www.ncbi.nlm.nih.gov/pubmed/34374352
http://dx.doi.org/10.3343/alm.2022.42.1.79

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8368237/
https://www.ncbi.nlm.nih.gov/pubmed/34374352
http://dx.doi.org/10.3343/alm.2022.42.1.79

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