Identification of four novel mutations in the alpha glucosidase gene in five Italian patients with infantile onset glycogen storage disease type II

American Journal of Medical Genetics

Volumn 121 A, Issue 3, 2003, Pages 225-230

  Pittis, Maria Gabriela ^a   Montalvo, Anna Lisa E ^a   Miocic, Snjezana ^a   Martini, Cristina ^a   Deganuto, Marta ^a   Candusso, Manila ^b   Ciana, Giovanni ^a   Bembi, Bruno ^a  

^a INSTITUTE FOR MATERNAL AND CHILD HEALTH IRCCS BURLO GAROFOLO   (Italy)

^b Azienda Ospedaliera   (Italy)

Author keywords

Acid alpha glucosidase gene; Frame shifting deletion; Glycogen storage disease type II; Missense mutation; Non typical infantile GSDII; Nonsense mutation; Pompe disease

Indexed keywords

ALPHA GLUCOSIDASE; NUCLEOTIDE DERIVATIVE;

ALLELE; ARTICLE; CLINICAL ARTICLE; COMPARATIVE STUDY; CONTROLLED STUDY; DISEASE SEVERITY; ENZYME ACTIVITY; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GENETIC IDENTIFICATION; GENETIC STRAIN; GLYCOGEN STORAGE DISEASE TYPE 2; HETEROZYGOSITY; HUMAN; IN VITRO STUDY; INFANT; ITALY; MALE; MEDICAL ASSESSMENT; PRIORITY JOURNAL;

EID: 0042194785     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20164     Document Type: Article

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