Allelic heterogeneity of glycogen storage disease type Ib in French patients: A study of 11 cases

Journal of Inherited Metabolic Disease

Volumn 27, Issue 5, 2004, Pages 621-623

  Trioche, P ^a   Petit, F ^a   Francoual, J ^a   Gajdos, V ^a   Capel, L ^a   Pous C ^a   Labrune, Philippe ^a  

^a HÔPITAL ANTOINE BÉCLÈRE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; CYTOSINE; GLUCOSE 6 PHOSPHATE; LEUCINE; PROLINE; RESTRICTION ENDONUCLEASE; THYMINE;

ADOLESCENT; ADULT; ALLELE; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; FRANCE; GENE MUTATION; GENE SEQUENCE; GENETIC HETEROGENEITY; GLYCOGEN STORAGE DISEASE TYPE 1; HUMAN; RESTRICTION MAPPING; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM;

ADOLESCENT; ADULT; ALLELES; ANTIPORTERS; CHILD; CHILD, PRESCHOOL; DNA RESTRICTION ENZYMES; EXONS; FRANCE; GLYCOGEN STORAGE DISEASE TYPE I; HUMANS; INTRONS; MONOSACCHARIDE TRANSPORT PROTEINS; MUTATION; PHOSPHOTRANSFERASES; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SEQUENCE ANALYSIS, DNA; VARIATION (GENETICS);

EID: 4644318391     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/B:BOLI.0000042987.43395.c6     Document Type: Article

References (6)

1. Janecke AR, Lindner M, Erdel M, et al (2000) Mutation analysis in glycogen storage disease type 1 non-a. Hum Genet 107: 285-289.
2. Matern D, Seydewitz HH, Bali D, Lang C, Chen YT (2002) Glycogen storage disease type I: diagnosis and phenotype/genotype correlation. Eur J Pediatr 161: S10-S19.
3. Lam CW, Sin SY, Lau ET, Lam YY, Poon P, Tong SF (2000) Prenatal diagnosis of glycogen storage disease type 1b using denaturing high performance liquid chromatography. Prenat Diagn 20: 765-768.
4. Veiga-da-Cunha M, Gerin I, Chen YT, et al (1998) A gene on chromosome 11q23 coding for a putative glucose-6-phosphate translocase is mutated in glycogen-storage disease types 1b and 1c. Am J Hum Genet 63: 976-983.
5. Veiga-da-Cunha M, Gerin I, Chen YT, et al (1999) The putative glucose-6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type 1 non a. Eur J Hum Genet 7: 717-723.
6. Visser G, Rake JP, Fernandes J, et al (2000) Neutropenia, neutrophil dysfunction, and inflammatory bowel disease in glycogen storage disease type Ib: results of the European study on glycogen storage disease. J Pediatr 137: 187-191.