Liliana Catherine Patiño Rajani Battu Oscar Ortega-Recalde Jeyabalan Nallathambi Venkata Ramana Anandula Umashankar Renukaradhya Paul Laissue
10.1371/journal.pone.0109576
PLoS One
2014 Oct 15;9(10):e109576.
CC BY
https://pubmed.ncbi.nlm.nih.gov/25333361/
Exome Neuronal Ceroid-Lipofuscinoses / diagnosis Pathology, Molecular / methods Sequence Analysis, DNA / methods
Exome Neuronal Ceroid-Lipofuscinoses / diagnosis Pathology, Molecular / methods Sequence Analysis, DNA / methods Case Reports Research Support, Non-U.S. Gov't Adolescent Child Child, Preschool Female High-Throughput Nucleotide Sequencing Humans Male Mutation Neuronal Ceroid-Lipofuscinoses / genetics
PMC4198115
25333361
Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis
2014