Alkaptonuria
|
|
0.810 |
GeneticVariation
|
UNIPROT |
The molecular basis of alkaptonuria.
|
8782815 |
1996 |
Alkaptonuria
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Molecular defects in alkaptonuria.
|
9154114 |
1997 |
Alkaptonuria
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Mutation and polymorphism analysis of the human homogentisate 1, 2-dioxygenase gene in alkaptonuria patients.
|
9529363 |
1998 |
Alkaptonuria
|
|
0.810 |
CausalMutation
|
CLINVAR |
Mutation and polymorphism analysis of the human homogentisate 1, 2-dioxygenase gene in alkaptonuria patients.
|
9529363 |
1998 |
Alkaptonuria
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A novel point mutation associated with alkaptonuria.
|
9630082 |
1998 |
Alkaptonuria
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Analysis of alkaptonuria (AKU) mutations and polymorphisms reveals that the CCC sequence motif is a mutational hot spot in the homogentisate 1,2 dioxygenase gene (HGO).
|
10205262 |
1999 |
Alkaptonuria
|
|
0.810 |
CausalMutation
|
CLINVAR |
Analysis of alkaptonuria (AKU) mutations and polymorphisms reveals that the CCC sequence motif is a mutational hot spot in the homogentisate 1,2 dioxygenase gene (HGO).
|
10205262 |
1999 |
Alkaptonuria
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene.
|
10340975 |
1999 |
Alkaptonuria
|
|
0.810 |
CausalMutation
|
CLINVAR |
Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene.
|
10340975 |
1999 |
Alkaptonuria
|
|
0.810 |
CausalMutation
|
CLINVAR |
Sequence analysis of the homogentisate 1,2 dioxygenase gene in a family affected by alkaptonuria.
|
10465119 |
1999 |
Alkaptonuria
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Allelic heterogeneity of alkaptonuria in Central Europe.
|
10482952 |
1999 |
Alkaptonuria
|
|
0.810 |
CausalMutation
|
CLINVAR |
Allelic heterogeneity of alkaptonuria in Central Europe.
|
10482952 |
1999 |
Alkaptonuria
|
|
0.810 |
GeneticVariation
|
UNIPROT |
We describe three novel mutations (R58fs, R330S, and H371R) and one common AKU mutation (M368V), detected by mutational and polymorphism analysis of the HGO gene in five Finnish AKU pedigrees.
|
10594001 |
1999 |
Alkaptonuria
|
|
0.810 |
CausalMutation
|
CLINVAR |
We describe three novel mutations (R58fs, R330S, and H371R) and one common AKU mutation (M368V), detected by mutational and polymorphism analysis of the HGO gene in five Finnish AKU pedigrees.
|
10594001 |
1999 |
Alkaptonuria
|
|
0.810 |
GeneticVariation
|
BEFREE |
We describe three novel mutations (R58fs, R330S, and H371R) and one common AKU mutation (M368V), detected by mutational and polymorphism analysis of the HGO gene in five Finnish AKU pedigrees.
|
10594001 |
1999 |
Alkaptonuria
|
|
0.810 |
CausalMutation
|
CLINVAR |
Three-generational alkaptonuria in a non-consanguineous family.
|
19096913 |
2008 |
Alkaptonuria
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria.
|
19862842 |
2009 |
Alkaptonuria
|
|
0.810 |
CausalMutation
|
CLINVAR |
Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria.
|
19862842 |
2009 |
Alkaptonuria
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Novel mutations in the homogentisate 1,2 dioxygenase gene identified in Jordanian patients with alkaptonuria.
|
21437689 |
2012 |
Alkaptonuria
|
|
0.810 |
GeneticVariation
|
UNIPROT |
First report of HGD mutations in a Chinese with alkaptonuria.
|
23353776 |
2013 |
Alkaptonuria
|
|
0.810 |
CausalMutation
|
CLINVAR |
Identification of 11 Novel Homogentisate 1,2 Dioxygenase Variants in Alkaptonuria Patients and Establishment of a Novel LOVD-Based HGD Mutation Database.
|
23430897 |
2012 |
Alkaptonuria
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Identification of 11 Novel Homogentisate 1,2 Dioxygenase Variants in Alkaptonuria Patients and Establishment of a Novel LOVD-Based HGD Mutation Database.
|
23430897 |
2012 |
Alkaptonuria
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Analysis of HGD Gene Mutations in Patients with Alkaptonuria from the United Kingdom: Identification of Novel Mutations.
|
25681086 |
2015 |