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

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

Abstract 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 molecula...

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Bibliographic Details
Main Authors: Abdulhakim Jilani, Diana Matviychuk, Susan Blaser, Sarah Dyack, Jean Mathieu, Asuri N. Prasad, Chitra Prasad, Lianna Kyriakopoulou, Saadet Mercimek‐Andrews
Format: Article
Language:English
Published: Wiley 2019-11-01
Series:JIMD Reports
Subjects:
CLN genes
developmental regression
epilepsy
neuronal ceroid lipofuscinoses
visual loss
Online Access:https://doi.org/10.1002/jmd2.12057

Internet

https://doi.org/10.1002/jmd2.12057

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