Citations for
1GSD1A
Mutation spectrum of the glucose-6-phosphatase gene and its implication in molecular diagnosis of Korean patients with glycogen storage disease type Ia.
Ki CS, Han SH, Kim HJ, Lee SG, Kim EJ, Kim JW, Choe YH, Seo JK, Chang YJ, Park JY.
Clin Genet 65(6):487-9. 2004
2G6PC, GSD1A
Glycogen storage disease type ia: molecular diagnosis of 51 japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells.
Akanuma J, Nishigaki T, Fujii K, Matsubara Y, Inui K, Takahashi K, Kure S, Suzuki Y, Ohura T, Miyabayashi S, Ogawa E, Iinuma K, Okada S, Narisawa K.
Am J Med Genet 91(2):107-12. 2000
3GSD1A
1176C polymorphism in Japanese patients with glycogen storage disease type 1a.
Okubo M, et al.
Hum Genet 104(2):193. No abstract available 1999
4GSD1A
Case report: Hepatocellular carcinoma in type 1a glycogen storage disease with identification of a glucose-6-phosphatase gene mutation in one family.
Nakamura T, et al.
J Gastroenterol Hepatol 14(6):553-8. 1999
5GSD1A
Identification of a point mutation (G727T) in the glucose-6-phosphatase gene in Japanese patients with glycogene storage disease type 1a, and carrier screening in healthy volunteers.
Okubo M, et al.
Clin Genet 51 : 179-183. 1997
6G6PC, GSD1A
Two new mutations in the glucose-6-phosphatase gene cause glycogen storage disease in Hungarian patients.
Parvari R, Lei KJ, Szonyi L, Narkis G, Moses S, Chou JY.
Eur J Hum Genet 5(4):191-5. 1997
7GSD1A
Mutation analysis in 24 French patients with glycogen storage disease type 1a.
Chevalier-Porst F, et al.
J Med Genet 33 : 358-360. 1996
8GSD1A
Genetic basis of glycogen storage disease type Ia : prevalent mutations at the glucose-6-phosphatase locus.
Lei KJ, et al.
Am J Hum Genet 57 : 766-771. 1995
9GSD1A
Characterization 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.
Parvari R, et al.
J Inherit Metab Dis 18 : 21-27. 1995
10AOC3P,BRCA1,ETV4,EZH1,GSD1A,HSD17B2,NBR1
Direct selection of expressed sequences within a 1-Mb region flanking BRCA1 on human chromosome 17q21.
Osborne-Lawrence S, et al.
Genomics 25 : 248-255. 1995
11AOC3P,ATP6V0A1,BRCA1,DDX5,ETV4,EZH1,FLT4R,GSD1A,HMG17P1,HSD17B1,NRXN3,RPL27,TUBG1
Construction of a transcription map surrounding the BRCA1 locus of human chromosome 17.
Brody LC, et al.
Genomics 25 : 238-247. 1995
12GSD1A
Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types 1a and 1aSP but not 1b and 1c.
Lei KJ, et al.
J Clin Invest 95 : 234-240. 1995
13GSD1A
Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a.
Lei KJ, et al.
Science 262 : 580-583. 1993