Item Type: | Article |
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Title: | A cysteine 3340 substitution in the dystroglycan-binding domain of dystrophin associated with duchenne muscular dystrophy, mental retardation and absence of the ERG b-wave |
Creators Name: | Lenk, U., Oexle, K., Voit, T., Ancker, U., Hellner, K.A., Speer, A. and Huebner, C. |
Keywords: | Binding Sites, Cysteine, Cytoskeletal Proteins, DNA Mutational Analysis, Dystroglycans, Dystrophin, Electroretinography, Intellectual Disability, Membrane Glycoproteins, Muscular Dystrophies, Point Mutation, Retina, Sarcolemma, Skeletal Muscle, Skeletal Muscle Fibers |
Source: | Human Molecular Genetics |
ISSN: | 0964-6906 |
Publisher: | Oxford University Press |
Volume: | 5 |
Page Range: | 973-975 |
Date: | 1 January 1996 |
PubMed: | View item in PubMed |
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