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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

Item Type:Article
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. and Oexle, K. and Voit, T. and Ancker, U. and Hellner, K.A. and 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 (U.K.)
Volume:5
Page Range:973-975
Date:1 January 1996
PubMed:View item in PubMed

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