Aberrant splicing at catalytic site as cause of infantile onset glycogen storage disease type II (GSDII): Molecular identification of a novel IVS9 (+2GT→GC) in combination with rare IVS10 (+1GT→CT)

American Journal of Medical Genetics

Volumn 101, Issue 1, 2001, Pages 55-58

  Stroppiano, Marina ^a   Bonuccelli, Gloria ^a   Corsolini, Fabio ^a   Filocamo, Mirella ^a,b  

^a G GASLINI INSTITUTE   (Italy)

^b Largo G Gaslini   (Italy)

Author keywords

Acid glucosidase gene; Genotype phenotype correlations; Glycogen storage disease type II (GSDII); Pompe disease; Splicing mutation

Indexed keywords

GLUCAN 1,4 ALPHA GLUCOSIDASE;

ADULT; ARTICLE; CASE REPORT; CONTROLLED STUDY; DISEASE SEVERITY; GENE DELETION; GENE INSERTION; GENOTYPE; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; RNA SPLICING;

AGE OF ONSET; ALLELES; ALPHA-GLUCOSIDASES; CATALYTIC DOMAIN; CELLS, CULTURED; DNA MUTATIONAL ANALYSIS; FEMALE; GENOTYPE; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; INFANT; MALE; MUTATION; PHENOTYPE; RNA SPLICING; RNA, MESSENGER; SEQUENCE DELETION;

EID: 0035370867     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.1310     Document Type: Article

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