Novel GNE mutations in hereditary inclusion body myopathy patients of non-middle eastern descent

Genetic Testing and Molecular Biomarkers

Volumn 14, Issue 2, 2010, Pages 157-162

  Saechao, Chai ^a,b   Valles Ayoub, Yadira ^a   Esfandiarifard, Saghi ^a   Haghighatgoo, Arman ^a   No, Daniel ^a   Shook, Steven ^c   Mendell, Jerry R ^d   Rosales Quintero, Xiomara ^d   Felice, Kevin J ^e   Morel, Chantal F ^f   Pietruska, Marvin ^a   Darvish, Daniel ^a  

^a HIBM Research Group   (United States)

^b CALIFORNIA STATE UNIVERSITY   (United States)

^c LERNER RESEARCH INSTITUTE   (United States)

^d THE RESEARCH INSTITUTE AT NATIONWIDE CHILDREN S HOSPITAL   (United States)

^e Hospital for Special Care New Britain   (United States)

^f UNIVERSITY HEALTH NETWORK   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

EPIMERASE; N ACETYLNEURAMINIC ACID; PHOSPHOTRANSFERASE;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CAUCASIAN; CLINICAL ARTICLE; CODON; CONTROLLED STUDY; DISTAL MYOPATHY; EUROPE; FEMALE; GENE; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; GNE GENE; HEREDITARY INCLUSION BODY MYOPATHY; HETEROZYGOSITY; HUMAN; HUMAN CELL; INDIA; MALE; MISSENSE MUTATION; NONSENSE MUTATION; PENETRANCE; PROTEIN DOMAIN; SYMPTOM; TAIWAN;

ADULT; ALLELES; AMINO ACID SUBSTITUTION; CODON, NONSENSE; DISTAL MYOPATHIES; DNA MUTATIONAL ANALYSIS; ETHNIC GROUPS; FEMALE; GENE FREQUENCY; HUMANS; INCLUSION BODIES; MALE; MIDDLE AGED; MULTIENZYME COMPLEXES; MUTATION; MUTATION, MISSENSE; PENETRANCE; PROTEIN STRUCTURE, TERTIARY;

EID: 77951011482     PISSN: 19450265     EISSN: 19450257     Source Type: Journal    
DOI: 10.1089/gtmb.2009.0157     Document Type: Article

References (10)

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