New mutation (S298P) in a patient with glycogen storage disease type IA

Human Mutation

Volumn 11, Issue SUPPL 1, 1998, Pages

  Stroppiano, Marina ^a   Mazzotti, Raffaella ^a   Regis, Stefano ^a   Gatti, Rosanna ^a  

^a UNIVERSITY OF GENOA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 0013678451     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.13801101109     Document Type: Note

References (5)

1. Hwu W-L, Chuang S-C. Tsai L-I: Chang M-H, Chuang S-M, Wang T-R (1995) Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type la. Hum Mol Genet 4:1095-1096.
2. Kajihara S, Matsuhashi S, Yamamoto K, Kid0 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 57549-555.
3. Lei K-J, Shelly LL, Pan C-J, Sidbury JB, Chou JY (1993) Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type la. Science 262:58-583.
4. Lei K-J, Chen Y-T, Chen H, Wong L-JC, Liu J-L, McConkie-Rosell A, Van Hove ILK, Ou HC-Y, Yeh NJ, Pan LY, Chou JY (1995) Genetic basis of glycogen storage disease type Ia: Prevalent mutations at the glucose-6-phosphatase locus. Am J Hum Genet 57~766-771.
5. Parvari R, Moses S, Hershkovitz E, Carmi R, Bashan N (1995) Characterization of the mutations in the glucose-6-phosphatase gene in Israeli patients with glycogen storage disease type I a: R83C in six Jews and a novel V166G mutation in a Muslim Arab. J Inher Metab Dis 18:21-27.