Browsing Administrative Staff Authors (Scholarly Publications) by Subject "BICD2"
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Phenotypic and molecular insights into Spinal Muscular Atrophy due to mutations in BICD2
(2015)Spinal muscular atrophy is a disorder of lower motor neurons, most commonly caused by recessive mutations in SMN1 on chromosome 5q. Cases without SMN1 mutations are subclassified according to phenotype. Spinal muscular ...