Fructose-1,6-Diphosphatase Deficiency
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Fructose 1,6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patients.
|
25601412 |
2015 |
Fructose-1,6-Diphosphatase Deficiency
|
0.730 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Fructose-1,6-Diphosphatase Deficiency
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency.
|
9382095 |
1997 |
Fructose-1,6-Diphosphatase Deficiency
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Two newly identified genomic mutations in a Japanese female patient with fructose-1,6-bisphosphatase (FBPase) deficiency.
|
12126934 |
2002 |
Fructose-1,6-Diphosphatase Deficiency
|
0.730 |
GeneticVariation
|
disease |
BEFREE |
FBP1 was screened for mutations in two subjects with fructose-1,6-bisphosphatase deficiency.
|
7558035 |
1995 |
Fructose-1,6-Diphosphatase Deficiency
|
0.730 |
GeneticVariation
|
disease |
BEFREE |
We report our experience with mutation analysis in 14 patients (13 families) with fructose-1,6-bisphosphatase deficiency using conventional Sanger sequencing and multiplex ligation-dependent probe amplification analysis, and we provide a mutation update for the fructose bisphosphatase-1 gene (FBP1).
|
27101822 |
2016 |
Fructose-1,6-Diphosphatase Deficiency
|
0.730 |
GeneticVariation
|
disease |
BEFREE |
Novel FBP1 gene mutations in Arab patients with fructose-1,6-bisphosphatase deficiency.
|
19259699 |
2009 |
Fructose-1,6-Diphosphatase Deficiency
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Identification of a genetic mutation in a family with fructose-1,6- bisphosphatase deficiency.
|
7763253 |
1995 |
Fructose-1,6-Diphosphatase Deficiency
|
0.730 |
Biomarker
|
disease |
CTD_human |
Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency.
|
9382095 |
1997 |
Fructose-1,6-Diphosphatase Deficiency
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Fructose-1,6-Diphosphatase Deficiency
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Fructose-1,6-Diphosphatase Deficiency
|
0.730 |
CausalMutation
|
disease |
CLINVAR |
Novel compound heterozygous mutations in the fructose-1,6-bisphosphatase gene cause hypoglycemia and lactic acidosis.
|
20096900 |
2011 |
Fructose-1,6-Diphosphatase Deficiency
|
0.730 |
CausalMutation
|
disease |
CLINVAR |
Transient pseudo-hypertriglyceridemia: a useful biochemical marker of fructose-1,6-bisphosphatase deficiency.
|
23881342 |
2013 |
Fructose-1,6-Diphosphatase Deficiency
|
0.730 |
CausalMutation
|
disease |
CLINVAR |
Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency.
|
9382095 |
1997 |
Fructose-1,6-Diphosphatase Deficiency
|
0.730 |
CausalMutation
|
disease |
CLINVAR |
Fructose 1,6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patients.
|
25601412 |
2015 |
Fructose-1,6-Diphosphatase Deficiency
|
0.730 |
CausalMutation
|
disease |
CLINVAR |
Clinical and molecular characterization of Indian patients with fructose-1, 6-bisphosphatase deficiency: Identification of a frequent variant (E281K).
|
29774539 |
2018 |
Fructose-1,6-Diphosphatase Deficiency
|
0.730 |
CausalMutation
|
disease |
CLINVAR |
A summary of molecular genetic findings in fructose-1,6-bisphosphatase deficiency with a focus on a common long-range deletion and the role of MLPA analysis.
|
27101822 |
2016 |
Fructose-1,6-Diphosphatase Deficiency
|
0.730 |
CausalMutation
|
disease |
CLINVAR |
Genetic analysis of fructose-1,6-bisphosphatase (FBPase) deficiency in nine consanguineous Pakistani families.
|
29016355 |
2017 |
Fructose-1,6-Diphosphatase Deficiency
|
0.730 |
GermlineCausalMutation
|
disease |
ORPHANET |
Two newly identified genomic mutations in a Japanese female patient with fructose-1,6-bisphosphatase (FBPase) deficiency.
|
12126934 |
2002 |
Fructose-1,6-Diphosphatase Deficiency
|
0.730 |
GermlineCausalMutation
|
disease |
ORPHANET |
Novel fructose-1,6-bisphosphatase gene mutation in two siblings.
|
24007283 |
2013 |
Fructose-1,6-Diphosphatase Deficiency
|
0.730 |
GermlineCausalMutation
|
disease |
ORPHANET |
Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency.
|
9382095 |
1997 |