Two distal mutations in the gene encoding emerin have profoundly different effects on emerin protein expression

Neuromuscular Disorders

Volumn 10, Issue 1, 2000, Pages 24-30

  Ellis, Juliet A ^a   Brown, Charlotte A ^b   Denise Tilley, L ^c   Kendrick Jones, John ^d   Edward Spence, J ^b   Yates, John R W ^e  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b CAROLINAS MEDICAL CENTER   (United States)

^c Women'S Institute Carolinas Med C   (United States)

^d MRC LABORATORY OF MOLECULAR BIOLOGY   (United Kingdom)

^e UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

3' Mutations; Emerin; Emery Dreifuss muscular dystrophy

Indexed keywords

EMERIN;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CELL CULTURE; CELL FRACTIONATION; EMERY DREIFUSS MUSCULAR DYSTROPHY; GENE MUTATION; GENOTYPE; HUMAN; IMMUNOBLOTTING; IN VITRO STUDY; LYMPHOBLASTOID CELL; MALE; PHENOTYPE; POLYACRYLAMIDE GEL ELECTROPHORESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; PROTEIN STRUCTURE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; X CHROMOSOME LINKAGE;

ADOLESCENT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; CELL NUCLEUS; CELLS, CULTURED; GENE DELETION; GENE EXPRESSION; GENOTYPE; HUMANS; MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUSCULAR DYSTROPHY, EMERY-DREIFUSS; MUTATION; NUCLEAR PROTEINS; PHENOTYPE; PHOSPHORYLATION; SUBCELLULAR FRACTIONS; THYMOPOIETINS; TISSUE DISTRIBUTION;

EID: 0033988181     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(99)00059-0     Document Type: Article

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