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Best practice guidelines for molecular analysis in spinal muscular atrophy

โœ Scribed by Scheffer, Hans; Cobben, Jan Maarten; Matthijs, Gert; Wirth, Brunhilde


Book ID
110025146
Publisher
Nature Publishing Group
Year
2001
Tongue
English
Weight
155 KB
Volume
9
Category
Article
ISSN
1018-4813

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## Communicated by Mark H. Paalman The autosomal recessive spinal muscular atrophy (SMA), a neuromuscular disease and frequent cause of early death in childhood, is caused in 96% of patients by homozygous absence of the survival motor neuron gene (SMN1). The severity of the disease is mainly deter