Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy

American Journal of Human Genetics

Volumn 88, Issue 6, 2011, Pages 729-740

  Duff, Rachael M ^a,b   Tay, Valerie ^c   Hackman, Peter ^d   Ravenscroft, Gianina ^a   McLean, Catriona ^e   Kennedy, Paul ^e   Steinbach, Alina ^f   Schöffler, Wiebke ^f   Van Der Ven, Peter F M ^f   Fürst, Dieter O ^f   Song, Jaeguen ^g   Djinović Carugo, Kristina ^g,m   Penttilä, Sini ^h   Raheem, Olayinka ^h   Reardon, Katrina ^c   Malandrini, Alessandro ⁱ   Gambelli, Simona ⁱ   Villanova, Marcello ^j   Nowak, Kristen J ^a   Williams, David R ^k   Landers, John E ^l   Brown Jr , Robert H ^l   Udd, Bjarne ^d,h,n   Laing, Nigel G ^a   more..

^a UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^b UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^c ST VINCENT S HOSPITAL   (Australia)

^d UNIVERSITY OF HELSINKI   (Finland)

^e UNIVERSITY OF MELBOURNE   (Australia)

^f UNIVERSITY OF BONN   (Germany)

^g UNIVERSITY OF VIENNA   (Austria)

^h TAMPERE UNIVERSITY OF TECHNOLOGY   (Finland)

ⁱ UNIVERSITY OF SIENA   (Italy)

^j Casa di Cura Nigrisoli   (Italy)

^k MONASH UNIVERSITY   (Australia)

^l UNIVERSITY OF MASSACHUSETTS MEDICAL SCHOOL   (United States)

^m UNIVERSITY OF LJUBLJANA   (Slovenia)

ⁿ VAASA CENTRAL HOSPITAL   (Finland)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ACTIN BINDING PROTEIN; COMPLEMENTARY DNA; FILAMIN; FILAMIN A; FILAMIN B; FILAMIN C; UNCLASSIFIED DRUG;

ADULT; AGED; AMINO TERMINAL SEQUENCE; ARTICLE; BINDING AFFINITY; CELL CULTURE; CHROMOSOME 7; CLINICAL ARTICLE; DIMERIZATION; DISTAL MYOPATHY; DNA SEQUENCE; FAMILY STUDY; FEMALE; GENE MUTATION; GENETIC CODE; HUMAN; ITALY; LINKAGE ANALYSIS; MALE; MUSCLE DISEASE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN LOCALIZATION;

ACTINS; ADULT; AGED; AUSTRALIA; CHROMOSOMES, HUMAN, PAIR 7; CONTRACTILE PROTEINS; DISTAL MYOPATHIES; FEMALE; HUMANS; ITALY; MALE; MICROFILAMENT PROTEINS; MIDDLE AGED; MUTATION; PEDIGREE; PROTEIN STRUCTURE, TERTIARY;

EID: 79958825364     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2011.04.021     Document Type: Article

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