Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number.

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Published in Hum Genet on March 01, 2006

Authors

B Wirth1, L Brichta, B Schrank, H Lochmüller, S Blick, A Baasner, R Heller

Author Affiliations

1: Institute of Human Genetics, University of Cologne, Kerpener Str. 34, 50931, Cologne, Germany. brunhilde.wirth@uk-koeln.de

Associated clinical trials:

Prospective Evaluation of Infants With Spinal Muscular Atrophy: (SPOTSMA) | NCT02831296

The Burden of Primary Caregivers of Spinal Muscular Atrophy Patients and Their Needs | NCT04228718

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