Novel mutation (G188R) in the G6Pase gene of a patient with glycogen storage disease type 1a
Corresponding Author
Pascale Trioche
Unite INSERM U347, Le Kremlin Bicětre Cedex, France
Service de Pédiatric, Hǒpital Antoine Béclère, Clamart Cedex, France
Service de Pédiatrie, Hǒpital Antoine Béclère, 157 rue de la porte de Trivaux, 92141 Clamart Cedex, FranceSearch for more papers by this authorPhilippe Labrune
Service de Pédiatric, Hǒpital Antoine Béclère, Clamart Cedex, France
Search for more papers by this authorMichel Odièvre
Service de Pédiatric, Hǒpital Antoine Béclère, Clamart Cedex, France
Search for more papers by this authorMichelle Hedchouel
Unite INSERM U347, Le Kremlin Bicětre Cedex, France
Service d'Hépatologie Pédiatrique, Hǒpital de Bicětre, Le Kremlin Bicětre, France
Search for more papers by this authorJean-François Deleuze
Unite INSERM U347, Le Kremlin Bicětre Cedex, France
Search for more papers by this authorCorresponding Author
Pascale Trioche
Unite INSERM U347, Le Kremlin Bicětre Cedex, France
Service de Pédiatric, Hǒpital Antoine Béclère, Clamart Cedex, France
Service de Pédiatrie, Hǒpital Antoine Béclère, 157 rue de la porte de Trivaux, 92141 Clamart Cedex, FranceSearch for more papers by this authorPhilippe Labrune
Service de Pédiatric, Hǒpital Antoine Béclère, Clamart Cedex, France
Search for more papers by this authorMichel Odièvre
Service de Pédiatric, Hǒpital Antoine Béclère, Clamart Cedex, France
Search for more papers by this authorMichelle Hedchouel
Unite INSERM U347, Le Kremlin Bicětre Cedex, France
Service d'Hépatologie Pédiatrique, Hǒpital de Bicětre, Le Kremlin Bicětre, France
Search for more papers by this authorJean-François Deleuze
Unite INSERM U347, Le Kremlin Bicětre Cedex, France
Search for more papers by this author
References
- Chen YT, Burchell A (1995) Glycogen storage diseases. In: CR Scriver, AL Beaudet, WS Sly, D Valle (eds): The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw Hill, pp 935–965.
- Kajihara S, Matsuhashi S, Yamamoto K, Kido K, Tsuji K, Tanae A, Fujiyama S, Itoh T, Tanigawa K, Uchida M, Setoguchi Y, Motomura M, Mizuta T, Sakai T (1995) Exon redefinition by a point mutation within exon 5 of the glucose-6-phosphatase gene is the major cause of glycogen storage disease type la in Japan. Am J Hum Genet 57: 549–555.
- Lei KJ, Shelly LL, Pan CJ, Sidbury JB, Chou JY (1993) Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1A. Science 262: 580–583.
- Lei KJ, Shelly LL, Lin B, Sidbury JB, Chen YT, Nordlie RC, Chou JY (1995a) Mutations in the glucose-6-phosphatase gene are associated with glycogen storage diseases types la and 1aSP but not 1b and 1c. J Clin Invest 95: 234–40.
- Lei KJ, Chen YT, Chen H, Wong LJC, Liu JL, McConkie-Rosell A, Van Hove JLK, Ou HCY, Yeh NJ, Pan LY, Chou JY (1995b) Genetics basis of glycogen storage disease type 1a: Prevalent mutations at the glucose-6-phosphatase locus. Am J Hum Genet 57: 766–771.
- Newton CR, Graham A, Heptinstall LE, Powell SJ, Summers C, Kaisheker JC, Smith JC, Markham AF (1989) Analysis of any point mutation in DNA: The amplification refractory mutation system (ARMS). Nucleic Acids Res 17: 2503–2516.
- Orita M, Suzuki T, Sekiya T, Hayashi K (1989) Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 5: 874–879.
- Parvari R, Moses S, Hershkovitz E, Carmi R, Bashan N (1995) Characterisation of the mutations in the glucose-6-phosphatase gene in Israeli patients with glycogen storage disease type 1a: R83C in six Jews and a novel V166G mutation in a Muslim Arab. J Inher Metab Dis 18: 21–27.
