Mutation analysis in glycogen storage disease type 1 non-a

Human Genetics

Volumn 107, Issue 3, 2000, Pages 285-289

  Janecke, Andreas R ^a   Lindner, Martin ^b   Erdel, Martin ^a   Mayatepek, Ertan ^b   Moslinger, Dorothea ^c   Podskarbi, Teodor ^d   Fresser, Friedrich ^a   Stockler Ipsiroglu, Silvia ^c   Hoffmann, Georg F ^b   Utermann, Gerd ^a  

^a UNIVERSITY OF INNSBRUCK   (Austria)

^b UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^c ST ANNA CHILDREN S HOSPITAL   (Austria)

^d Labor für Stoffwechselgenetik   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSE 6 PHOSPHATASE;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; ENZYME ACTIVITY; ENZYME ANALYSIS; FEMALE; GENE MUTATION; GENE SEQUENCE; GLYCOGEN STORAGE DISEASE TYPE 1; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; LIVER; MALE; PRIORITY JOURNAL;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 11; CROHN DISEASE; FEMALE; GLYCOGEN STORAGE DISEASE TYPE I; GROWTH DISORDERS; HUMAN; INFANT; MALE; MUTATION; NEUTROPENIA; PHOSPHOTRANSFERASES; PSYCHOMOTOR DISORDERS;

EID: 0033777083     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390000371     Document Type: Article

References (6)

1. Glycogen storage diseases
2. Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b
3. Glycogen storage disease type Ib: Structural and mutational analysis of the microsomal glucose-6-phosphate transporter gene
4. Structure and mutation analysis of the glycogen storage disease type 1b gene
5. Transmembrane topology of human glucose 6-phosphate transporter
6. The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a