Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants.

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作者： Marisa,Encarnação ^[1] ; Maria Francisca,Coutinho ^[2] ; Lisbeth,Silva ^[3] ; Diogo,Ribeiro ^[1] ; Souad,Ouesleti ^[3] ; Teresa,Campos ^[1] ; Helena,Santos ^[2] ; Esmeralda,Martins ^[1] ; Maria Teresa,Cardoso ^[4] ; Laura,Vilarinho ^[5] ; Sandra,Alves ^[6]

作者单位： Research and Development Unit, Human Genetics Department, National Institute of Health Doutor Ricardo Jorge, 4000-055 Porto, Portugal. ^[1] Newborn Screening, Metabolism & Genetics Unit, Human Genetics Department, National Institute of Health Doutor Ricardo Jorge, 4000-055 Porto, Portugal. ^[2] Center for the Study of Animal Science, CECA-ICETA, University of Porto, 4051-401 Porto, Portugal. ^[3] Biochemical Service, CHU Farhat Hached, 4000 Sousse, Tunisia. ^[4] Reference Center for Inherited Metabolic Disorders, University Hospital Centre S. João, 4202-451 Porto, Portugal. ^[5] Department of Pediatrics, Hospital Centre, EPE, 4434-502 V.N. Gaia, Portugal. ^[6] Oporto Hospital Centre, University of Porto, 4099-001 Porto, Portugal. ^[7]

关键词 CLN7 GM2 Gangliosidosis GM2A gene bioinformatics analysis diagnostics odyssey lysosomal storage diseases (LSDs)molecular genetic testing (MGT)next-generation sequencing (NGS)