High diagnostic yield of direct Sanger sequencing in the diagnosis of neuronal ceroid lipofuscinoses

BACKGROUND: Neuronal ceroid lipofuscinoses are neurodegenerative disorders. To investigate the diagnostic yield of direct Sanger sequencing of the CLN genes, we reviewed Molecular Genetics Laboratory Database for molecular genetic test results of the CLN genes from a single clinical molecular diagno...

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Detalles Bibliográficos
Autores principales: Jilani, Abdulhakim, Matviychuk, Diana, Blaser, Susan, Dyack, Sarah, Mathieu, Jean, Prasad, Asuri N., Prasad, Chitra, Kyriakopoulou, Lianna, Mercimek‐Andrews, Saadet
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2019
Materias:
Research Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6850977/
https://www.ncbi.nlm.nih.gov/pubmed/31741823
http://dx.doi.org/10.1002/jmd2.12057

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