Multiplex Ligation-dependent Probe Amplification Analysis Subsequent to Direct DNA Full Sequencing for Identifying ATP7B Mutations and Phenotype Correlations in Children with Wilson Disease

BACKGROUND: Mutations in ATP7B cause Wilson disease (WD). However, direct DNA full sequencing cannot detect all mutations in patients with WD. Multiplex ligation-dependent probe amplification (MLPA) analysis is reportedly useful in increasing the diagnostic yield in other genetic disorders with larg...

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Detalles Bibliográficos
Autores principales: Shim, Jung Ok, Yang, Hye Ran, Moon, Jin Soo, Chang, Ju Young, Ko, Jae Sung, Park, Sung Sup, Seo, Jeong Kee
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2018
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6010744/
https://www.ncbi.nlm.nih.gov/pubmed/29930488
http://dx.doi.org/10.3346/jkms.2018.33.e177

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