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

Human Molecular Genetics

Volumn 5, Issue 7, 1996, Pages 973-975

  Lenk, Uwe ^a   Oexle, Konrad ^b   Voit, Thomas ^c   Ancker, Ulrike ^d   Hellner, Karl Anton ^d   Speer, Astrid ^b   Hübner, Christoph ^b  

^a MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

^b HUMBOLDT UNIVERSITY   (Germany)

^c UNIVERSITY OF DUISBURG ESSEN   (Germany)

^d UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTEINE; DYSTROPHIN; GLYCAN DERIVATIVE;

AMINO ACID SUBSTITUTION; ARTICLE; B WAVE; BINDING SITE; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CONTROLLED STUDY; DUCHENNE MUSCULAR DYSTROPHY; ELECTRORETINOGRAM; HUMAN; HUMAN TISSUE; IMMUNOBLOTTING; IMMUNOHISTOCHEMISTRY; MALE; MENTAL DEFICIENCY; MISSENSE MUTATION; PRIORITY JOURNAL; SARCOLEMMA; SCHOOL CHILD;

EID: 0030016360     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.7.973     Document Type: Article

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