Clinical and genetic variability of glycogen storage disease type IIIa: Seven novel AGL gene mutations in the Mediterranean area

American Journal of Medical Genetics

Volumn 109, Issue 3, 2002, Pages 183-190

  Lucchiari, S ^a   Fogh, I ^a   Prelle, A ^b   Parini, R ^b   Bresolin, N ^c   Melis, D ^c   Fiori, L ^d   Scarlato, G ^d   Comi, G P ^a,e  

^a FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^b Clinica Pediatrica De Marchi   (Italy)

^c SCIENTIFIC INSTITUTE   (Italy)

^d UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^e UNIVERSITY OF MILAN   (Italy)

Author keywords

AGL; Compound heterozygous; Glycogen debranching enzyme; Glycogen storage disease; Mutation

Indexed keywords

AMYLO 1,6 GLUCOSIDASE; GLYCOGEN DEBRANCHING ENZYME;

ADOLESCENT; ADULT; ARTICLE; CHROMOSOME 1P; CLINICAL ARTICLE; CLINICAL FEATURE; DNA SEQUENCE; FEMALE; GENE LOCATION; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC VARIABILITY; GENOTYPE; GLYCOGEN STORAGE DISEASE TYPE 3; HUMAN; MALE; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; SOUTHERN EUROPE;

ADOLESCENT; ADULT; AGED; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; GLYCOGEN DEBRANCHING ENZYME SYSTEM; GLYCOGEN STORAGE DISEASE TYPE III; HUMANS; MALE; MEDITERRANEAN REGION; MIDDLE AGED; MUTATION; VARIATION (GENETICS);

EID: 0036569298     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.10347     Document Type: Article

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