Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy

Human Genetics

Volumn 104, Issue 3, 1999, Pages 262-268

  Ellis, Juliet A ^a   Yates, John R W ^a   Kendrick Jones, John ^b   Brow, Charlotte A ^c  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b MRC LABORATORY OF MOLECULAR BIOLOGY   (United Kingdom)

^c CAROLINAS MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EMERIN; HISTIDINE; NUCLEAR PROTEIN; PROLINE; THREONINE;

ADULT; AMINO ACID SUBSTITUTION; ANKLE; ARTICLE; CONTROLLED STUDY; ELBOW; EMERY DREIFUSS MUSCULAR DYSTROPHY; HUMAN; HUMAN CELL; JOINT CONTRACTURE; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUSCLE WEAKNESS; ONSET AGE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN PROTEIN INTERACTION; X CHROMOSOME LINKAGE;

ADULT; AMINO ACID SUBSTITUTION; CELL LINE, TRANSFORMED; DNA MUTATIONAL ANALYSIS; GENOTYPE; HUMANS; IMMUNOBLOTTING; LINKAGE (GENETICS); MALE; MEMBRANE PROTEINS; MEMBRANES; MUSCULAR DYSTROPHIES; MUSCULAR DYSTROPHY, EMERY-DREIFUSS; MUTATION; NUCLEAR PROTEINS; PHENOTYPE; PHOSPHORYLATION; PROLINE; PROTEIN BINDING; THYMOPOIETINS; X CHROMOSOME;

EID: 0032939360     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050946     Document Type: Article

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