Novel mutation (G188R) in the G6Pase gene of a patient with glycogen storage disease type la

Human Mutation

Volumn 11, Issue SUPPL 1, 1998, Pages

  Trioche, Pascale ^a,b   Labrune, Philippe ^b   Odièvre, Michel ^b   Hedchouel, Michelle ^a,c   Deleuzel, Jean Frančois ^a  

^a INSERM   (France)

^b HÔPITAL ANTOINE BÉCLÈRE   (France)

^c Hôpital de Béclère   (France)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 0013658390     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1380111102     Document Type: Note

References (8)

1. Chen YT, Burchell A (1995) Glycogen storage diseases. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw Hill, pp 935-965.
2. 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.
3. 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.
4. 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 laSP but not lb and lc. J Clin Invest 95:234-40.
5. Lei KJ, Chen YT, Chen H, Wong LJC, Liu JL, Mc Conkie-Rosell A, Van Hove JLK, Ou HCY, Yeh NJ, Pan LY, Chou JY (1995b) Genetics basis of glycogen storage disease type la: Prevalent mutations at the glucose-6-phosphatase locus. Am J Hum Genet 57:766-771.
6. 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.
7. 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.
8. 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 la: R83C in six Jews and a novel V166G mutation in a Muslim Arab. J Inher Metab Dis 18:21-27.