Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression

Human Molecular Genetics

Volumn 7, Issue 5, 1998, Pages 855-864

  Manilal, S ^a   Recan, D ^b   Sewry, C A ^c   Hoeltzenbein, M ^d   Llense, S ^b   Leturcq, F ^b   Deburgrave, N ^b   Barbot, J C ^b   Nguyen Thi Man, ^a   Muntoni, F ^c   Wehnert, M ^d   Kaplan, J C ^b   Morris, G E ^a  

^a GLYNDWR UNIVERSITY   (United Kingdom)

^b Hôpital Cochin ^*  (France)

^c IMPERIAL COLLEGE SCHOOL OF MEDICINE   (United Kingdom)

^d UNIVERSITY OF GREIFSWALD   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

EMERIN; MEMBRANE PROTEIN; MESSENGER RNA; MUTANT PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ALLELE; ARTICLE; AUTOSOMAL INHERITANCE; CARBOXY TERMINAL SEQUENCE; CARDIOMYOPATHY; CELL NUCLEUS MEMBRANE; CLINICAL ARTICLE; CONTROLLED STUDY; DELETION MUTANT; DNA DETERMINATION; DNA SEQUENCE; EMERY DREIFUSS MUSCULAR DYSTROPHY; FEMALE; GENE MUTATION; HUMAN; HUMAN CELL; IMMUNOBLOTTING; LEUKOCYTE; LYMPHOBLASTOID CELL LINE; MALE; MUSCULAR DYSTROPHY; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN EXPRESSION; SEQUENCE ANALYSIS; TRANSLATION REGULATION; X CHROMOSOME LINKAGE;

ADOLESCENT; ADULT; CELL LINE, TRANSFORMED; CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; LYMPHOCYTES; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUSCULAR DYSTROPHIES; MUSCULAR DYSTROPHY, EMERY-DREIFUSS; MUTATION; NUCLEAR PROTEINS; PEDIGREE; THYMOPOIETINS; X CHROMOSOME;

EID: 7144256260     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/7.5.855     Document Type: Article

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