Mutations in repeating structural motifs of tropomyosin cause gain of function in skeletal muscle myopathy patients

Human Molecular Genetics

Volumn 22, Issue 24, 2013, Pages 4978-4987

  Marston, Steven ^a   Memo, Massimiliano ^a   Messer, Andrew ^a   Papadaki, Maria ^a   Nowak, Kristen ^b   Mcnamara, Elyshia ^b   Ong, Royston ^b   El Mezgueldi, Mohammed ^c   Li, Xiaochuan ^d   Lehman, William ^d  

^a IMPERIAL COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^c UNIVERSITY OF LEICESTER   (United Kingdom)

^d BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIN; ASPARTIC ACID; TROPOMYOSIN;

AMINO ACID SEQUENCE; ARTICLE; BINDING AFFINITY; GAIN OF FUNCTION MUTATION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; IN VITRO STUDY; MYOPATHY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN PROTEIN INTERACTION; SCANNING ELECTRON MICROSCOPY; SKELETAL MUSCLE MYOPATHY;

ACTINS; AMINO ACID SEQUENCE; BINDING SITES; HUMANS; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUSCLE CONTRACTION; MUSCLE, SKELETAL; MUSCULAR DISEASES; MUTATION; PROTEIN BINDING; PROTEIN CONFORMATION; PROTEIN INTERACTION DOMAINS AND MOTIFS; TROPOMYOSIN;

EID: 84888168664     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddt345     Document Type: Article

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