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...
Main Authors: | Abdulhakim Jilani, Diana Matviychuk, Susan Blaser, Sarah Dyack, Jean Mathieu, Asuri N. Prasad, Chitra Prasad, Lianna Kyriakopoulou, Saadet Mercimek‐Andrews |
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Format: | Article |
Language: | English |
Published: |
Wiley
2019-11-01
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Series: | JIMD Reports |
Subjects: | |
Online Access: | https://doi.org/10.1002/jmd2.12057 |
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