Mutation Update for GNE Gene Variants Associated with GNE Myopathy

Human Mutation

Volumn 35, Issue 8, 2014, Pages 915-926

  Celeste, Frank V ^a   Vilboux, Thierry ^b   Ciccone, Carla ^b   de Dios, John Karl ^b   Malicdan, May Christine V ^b   Leoyklang, Petcharat ^b   Mckew, John C ^a   Gahl, William A ^b   Carrillo Carrasco, Nuria ^a   Huizing, Marjan ^b  

^a NATIONAL INSTITUTES OF HEALTH   (United States)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

Adult onset muscular dystrophy; Distal myopathy with rimmed vacuoles; DMRV; GNE; Hereditary inclusion body myopathy; HIBM

Indexed keywords

MULTIENZYME COMPLEX; SIALIC ACID DERIVATIVE; UDP-N-ACETYLGLUCOSAMINE 2-EPIMERASE - N-ACETYLMANNOSAMINE KINASE;

ALLELE; ASIAN CONTINENTAL ANCESTRY GROUP; CAUCASIAN; CHEMISTRY; DISTAL MYOPATHY; ETHNOLOGY; EXOME; EXON; GENE EXPRESSION; GENE FREQUENCY; GENETIC DATABASE; GENETIC HETEROGENEITY; GENETICS; HUMAN; INTRON; METABOLISM; MUTATION; PATHOLOGY; PATHOPHYSIOLOGY; SKELETAL MUSCLE;

ALLELES; ASIAN CONTINENTAL ANCESTRY GROUP; DATABASES, GENETIC; DISTAL MYOPATHIES; EUROPEAN CONTINENTAL ANCESTRY GROUP; EXOME; EXONS; GENE EXPRESSION; GENE FREQUENCY; GENETIC HETEROGENEITY; HUMANS; INTRONS; MULTIENZYME COMPLEXES; MUSCLE, SKELETAL; MUTATION; SIALIC ACIDS;

EID: 84904399010     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22583     Document Type: Article

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