Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores

American Journal of Human Genetics

Volumn 87, Issue 6, 2010, Pages 842-847

  Sambuughin, Nyamkhishig ^a   Yau, Kyle S ^b   Olivé, Montse ^c   Duff, Rachael M ^b   Bayarsaikhan, Munkhuu ^a   Lu, Shajia ^d   Gonzalez Mera, Laura ^c   Sivadorai, Padma ^e   Nowak, Kristen J ^b   Ravenscroft, Gianina ^b   Mastaglia, Frank L ^f   North, Kathryn N ^g   Ilkovski, Biljana ^g   Kremer, Hannie ^h   Lammens, Martin ^h   Van Engelen, Baziel G M ^h   Fabian, Vicki ^e   Lamont, Phillipa ^e   Davis, Mark R ^e   Laing, Nigel G ^b   Goldfarb, Lev G ⁱ   more..

^a UNIFORMED SERVICES UNIVERSITY OF THE HEALTH SCIENCES   (United States)

^b UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^c HOSPITAL UNIVERSITARI DE BELLVITGE   (Spain)

^d NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES   (United States)

^e ROYAL PERTH HOSPITAL   (Australia)

^f UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^g CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^h RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

ⁱ NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 15; CLINICAL ARTICLE; CYTOSKELETON; GENE CONTROL; GENETIC ANALYSIS; GENETIC SCREENING; GENETIC TRANSCRIPTION; HEART MUSCLE; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MISSENSE MUTATION; MUSCLE FIBRIL; NEMALINE MYOPATHY; NEMALINE MYOPATHY TYPE 6; PRIORITY JOURNAL; PROTEIN ANALYSIS; SKELETAL MUSCLE; UBIQUITINATION;

AGE OF ONSET; AMINO ACID SEQUENCE; ANIMALS; CHILD; CHROMOSOMES, HUMAN, PAIR 15; GENES, DOMINANT; HUMANS; IMMUNOHISTOCHEMISTRY; MOLECULAR SEQUENCE DATA; MUSCLE PROTEINS; MUTATION, MISSENSE; MYOPATHIES, NEMALINE; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 78649796274     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2010.10.020     Document Type: Article

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