Refining the genetics of muscular dystrophies with defective glycosylation of dystroglycan
The aberrant glycosylation of α-dystroglycan is associated with a subset of clinically heterogeneous muscular dystrophies collectively referred to as dystroglycanopathies. Mutations in seven genes are currently known to result in these autosomal recessive disorders. To define the mutation frequency...
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University College London (University of London)
2010
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| Online Access: | http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.576138 |