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New Workflow Enhances Detection of 5q-Spinal Muscular Atrophy

New Workflow Enhances Detection of 5q-Spinal Muscular Atrophy
miragenews.com - get the latest breaking news, showbiz & celebrity photos, sport news & rumours, viral videos and top stories from miragenews.com Daily Mail and Mail on Sunday newspapers.

Noord Holland , Teresa Neuhann , Angela Abicht , Genetics Center , Department Of Neurology , Medical Genetics Center , Human Phenotype Ontology ,

New diagnostic workflow improves detection of 5q-spinal muscular atrophy

5q-spinal muscular atrophy (5q-SMA) is one of the more common types of spinal muscular atrophy (SMA) affecting around one in ten thousand individuals worldwide. ....

Teresa Neuhann , Angela Abicht , Department Of Neurology , Genetics Center , Lead Investigator , Medical Genetics Center , Human Phenotype Ontology , Muscular Atrophy , Spinal Muscular Atrophy , Exome Sequencing ,

Novel workflow closes the gap in detecting 5q-spinal muscular atrophy

Novel workflow closes the gap in detecting 5q-spinal muscular atrophy
medicalxpress.com - get the latest breaking news, showbiz & celebrity photos, sport news & rumours, viral videos and top stories from medicalxpress.com Daily Mail and Mail on Sunday newspapers.

Stephanie Kleinle , Teresa Neuhann , Angela Abicht , Genetics Center , Department Of Neurology , Integrative Genomics Viewer , Neuromuscular Diseases , Medical Genetics Center , Human Phenotype Ontology , Spinal Muscular Atrophy , Short Read Next Generation Sequencing , Unexpected Results , Diagnostic Patient Cohort ,