Mutation spectrum of type I glycogen storage disease in Hungary

Journal of Inherited Metabolic Disease

Volumn 28, Issue 6, 2005, Pages 939-944

  Miltenberger Miltenyi, G ^a   Szonyi, L ^b   Balogh, L ^b   Utermann, G ^a   Janecke, A R ^a  

^a INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^b SEMMELWEIS UNIVERSITY   (Hungary)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; GENE PRODUCT; GLUCOSE 6 PHOSPHATE; GLYCOGEN;

ALLELE; CLINICAL ARTICLE; CLINICAL FEATURE; FEMALE; G6PT1 GENE; GENE MUTATION; GLYCOGEN STORAGE DISEASE TYPE 1; HOMOZYGOSITY; HUMAN; HUMAN GENOME; HUNGARY; INFANT; MALE; NEUTROPENIA; PATIENT CODING; REVIEW;

AGE OF ONSET; ALLELES; ANTIPORTERS; CALCIUM; CHILD; CHILD, PRESCHOOL; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; GLYCOGEN STORAGE DISEASE TYPE I; HOMOZYGOTE; HUMANS; HUNGARY; INFANT; INTRONS; MALE; MONOSACCHARIDE TRANSPORT PROTEINS; MUTATION; NEUTROPENIA; SEQUENCE ANALYSIS, DNA;

EID: 31644448422     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-005-0186-7     Document Type: Review

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