Nemaline myopathy caused by mutations in the muscle α-skeletal-actin gene

American Journal of Human Genetics

Volumn 68, Issue 6, 2001, Pages 1333-1343

  Ilkovski, Biljana ^a   Cooper, Sandra T ^a   Nowak, Kristen ^e,f   Ryan, Monique M ^a   Yang, Nan ^a   Schnell, Christina ^a   Durling, Hayley J ^e   Roddick, Laurence G ^g   Wilkinson, Ian ^g   Kornberg, Andrew J ^h   Collins, Kevin J ^h   Wallace, Geoff ⁱ   Gunning, Peter ^b   Hardeman, Edna C ^d   Laing, Nigel G ^e   North, Kathryn N ^a,c  

^a Australian Neuromuscular Research Institute   (Australia)

^b CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^c UNIVERSITY OF SYDNEY   (Australia)

^d Institute for Child Health Research   (Australia)

^e UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^f MURDOCH UNIVERSITY   (Australia)

^g John Hunter Children s Hospital   (Australia)

^h ROYAL CHILDREN'S HOSPITAL   (Australia)

ⁱ MATER CHILDREN S HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA ACTIN; GENE PRODUCT; PROTEIN ACTA1; UNCLASSIFIED DRUG;

ACTIN FILAMENT; ADULT; ARTICLE; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENETIC HETEROGENEITY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; INFANT; MALE; MISSENSE MUTATION; NEMALINE MYOPATHY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN PROTEIN INTERACTION; SCHOOL CHILD;

EID: 0034992606     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/320605     Document Type: Article

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