article_metadata: Liliana Catherine Patiño Rajani Battu Oscar Ortega-Recalde Jeyabalan Nallathambi Venkata Ramana Anandula Umashankar Renukaradhya Paul Laissue
article_metadata: 10.1371/journal.pone.0109576
article_metadata: PLoS One
article_metadata: 2014 Oct 15;9(10):e109576.
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/25333361/
article_metadata: Exome Neuronal Ceroid-Lipofuscinoses / diagnosis Pathology, Molecular / methods Sequence Analysis, DNA / methods
article_metadata: 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
article_metadata: PMC4198115
article_metadata: 25333361
article_metadata: Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis
article_metadata: 2014