Two new missense mutations of GAA in late onset glycogen storage disease type II

Journal of the Neurological Sciences

Volumn 251, Issue 1-2, 2006, Pages 113-117

  Park, Young Eun ^a   Park, Kyu Hyun ^a   Lee, Chang Hoon ^a   Kim, Cheol Min ^a   Kim, Dae Seong ^a  

^a Pusan National University School of Medicine   (South Korea)

Author keywords

GAA; Glycogen storage disease type II; Late onset; Missense mutation

Indexed keywords

GLUCAN 1,4 ALPHA GLUCOSIDASE;

ADULT; ALLELE; ARTICLE; CASE REPORT; ENZYME ACTIVITY; FEMALE; GENOTYPE; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; KOREA; LEUKOCYTE; MALE; MISSENSE MUTATION; ONSET AGE; PHENOTYPE; POPULATION GENETIC PARAMETERS; POPULATION RESEARCH; PRESCHOOL CHILD; PRIORITY JOURNAL; RECURRENT DISEASE; SEQUENCE ANALYSIS; SKELETAL MUSCLE;

ADULT; ALPHA-GLUCOSIDASES; CHILD; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; KOREA; LYSINE; MALE; METHIONINE; MIDDLE AGED; MUTATION, MISSENSE; PROLINE; SERINE;

EID: 33751215485     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2006.09.012     Document Type: Article

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