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New Workflow Enhances Detection of 5q-Spinal Muscular Atrophy

New Workflow Enhances Detection of 5q-Spinal Muscular Atrophy
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Noord hollandTeresa neuhannAngela abichtGenetics centerDepartment of neurologyMedical genetics centerHuman 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 neuhannAngela abichtDepartment of neurologyGenetics centerLead investigatorMedical genetics centerHuman phenotype ontologyMuscular atrophySpinal muscular atrophyExome 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 kleinleTeresa neuhannAngela abichtGenetics centerDepartment of neurologyIntegrative genomics viewerNeuromuscular diseasesMedical genetics centerHuman phenotype ontologySpinal muscular atrophyShort read next generation sequencingUnexpected resultsDiagnostic patient cohort