rs1555560149
×
Entrez Id:
2538
Gene Symbol:
G6PC
G6PC
Glycogen Storage Disease Type I
0.700
GeneticVariation
UNIPROT
Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a.
8182131
1994
rs1555560149
×
Entrez Id:
2538
Gene Symbol:
G6PC
G6PC
Glycogen Storage Disease Type I
0.700
GeneticVariation
UNIPROT
Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type Ia.
7655466
1995
rs1555560149
×
Entrez Id:
2538
Gene Symbol:
G6PC
G6PC
Glycogen Storage Disease Type I
0.700
GeneticVariation
UNIPROT
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.
7623438
1995
rs1555560149
×
Entrez Id:
2538
Gene Symbol:
G6PC
G6PC
Glycogen Storage Disease Type I
0.700
GeneticVariation
UNIPROT
Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus.
7573034
1995
rs1555560149
×
Entrez Id:
2538
Gene Symbol:
G6PC
G6PC
Glycogen Storage Disease Type I
0.700
GeneticVariation
UNIPROT
Mutation analysis in 24 French patients with glycogen storage disease type 1a.
8733042
1996
rs1555560149
×
Entrez Id:
2538
Gene Symbol:
G6PC
G6PC
Glycogen Storage Disease Type I
0.700
GeneticVariation
UNIPROT
Glycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studies.
9332655
1997
rs1555560149
×
Entrez Id:
2538
Gene Symbol:
G6PC
G6PC
Glycogen Storage Disease Type I
0.700
GeneticVariation
UNIPROT
Molecular aspects of glycogen storage disease type Ia in Turkish patients: a novel mutation in the glucose-6-phosphatase gene.
9700612
1998
rs1555560149
×
Entrez Id:
2538
Gene Symbol:
G6PC
G6PC
Glycogen Storage Disease Type I
0.700
GeneticVariation
UNIPROT
A novel mutation in a Brazilian patient with glycogen storage disease type 1a.
9700613
1998
rs1555560149
×
Entrez Id:
2538
Gene Symbol:
G6PC
G6PC
Glycogen Storage Disease Type I
0.700
GeneticVariation
UNIPROT
Identification of three novel mutations (Q54P, W70X and T108I) in the glucose-6-phosphatase gene of patients with glycogen storage disease type Ia. Mutation in brief no. 256. Online.
10447271
1999
rs1555560149
×
Entrez Id:
2538
Gene Symbol:
G6PC
G6PC
Glycogen Storage Disease Type I
0.700
GeneticVariation
UNIPROT
Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen storage disease type Ia.
10070617
1999
rs1555560149
×
Entrez Id:
2538
Gene Symbol:
G6PC
G6PC
Glycogen Storage Disease Type I
0.700
GeneticVariation
UNIPROT
Identification of a novel missense mutation (T16A) in the glucose-6-phosphatase gene in a Taiwan Chinese patient with glycogen storage disease Ia (Von Gierke disease).
10738005
2000
rs1555560149
×
Entrez Id:
2538
Gene Symbol:
G6PC
G6PC
Glycogen Storage Disease Type I
0.700
GeneticVariation
UNIPROT
Glucose-6-phosphatase mutation G188R confers an atypical glycogen storage disease type 1b phenotype.
10960498
2000
rs1555560149
×
Entrez Id:
2538
Gene Symbol:
G6PC
G6PC
Glycogen Storage Disease Type I
0.700
GeneticVariation
UNIPROT
Identification of mutations in the glucose-6-phosphatase gene in Czech and Slovak patients with glycogen storage disease type ia, including novel mutations K76N, V166A and 540del5.
10874313
2000
rs1555560149
×
Entrez Id:
2538
Gene Symbol:
G6PC
G6PC
Glycogen Storage Disease Type I
0.700
GeneticVariation
UNIPROT
A novel missense mutation (H119L) identified in a Taiwan Chinese family with glycogen storage disease Ia (Von Gierke disease).
11058910
2000
rs1555560149
×
Entrez Id:
2538
Gene Symbol:
G6PC
G6PC
Glycogen Storage Disease Type I
0.700
GeneticVariation
UNIPROT
Molecular genetic analysis of 40 patients with glycogen storage disease type Ia: 100% mutation detection rate and 5 novel mutations.
10612834
2000
rs1555560149
×
Entrez Id:
2538
Gene Symbol:
G6PC
G6PC
Glycogen Storage Disease Type I
0.700
GeneticVariation
UNIPROT
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.
10748407
2000
rs1555560149
×
Entrez Id:
2538
Gene Symbol:
G6PC
G6PC
Glycogen Storage Disease Type I
0.700
GeneticVariation
UNIPROT
Glycogen storage disease type I: diagnosis and phenotype/genotype correlation.
12373566
2002
rs1555560149
×
Entrez Id:
2538
Gene Symbol:
G6PC
G6PC
Glycogen Storage Disease Type I
0.700
GeneticVariation
UNIPROT
Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population.
15316959
2004
rs1555560149
×
Entrez Id:
2538
Gene Symbol:
G6PC
G6PC
Glycogen Storage Disease Type I
0.700
GeneticVariation
UNIPROT
Glycogen storage disease type Ia in Argentina: two novel glucose-6-phosphatase mutations affecting protein stability.
15542400
2004
rs1555560149
×
Entrez Id:
2538
Gene Symbol:
G6PC
G6PC
Glycogen Storage Disease Type I
0.700
GeneticVariation
UNIPROT
Mutation spectrum of the glucose-6-phosphatase gene and its implication in molecular diagnosis of Korean patients with glycogen storage disease type Ia.
15151508
2004
rs1555560149
×
Entrez Id:
2538
Gene Symbol:
G6PC
G6PC
Glycogen Storage Disease Type I
0.700
GeneticVariation
UNIPROT
Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics.
25356975
2014