rs759347283
×
Entrez Id:
1371
Gene Symbol:
CPOX
CPOX
Hereditary Coproporphyria
0.700
GeneticVariation
UNIPROT
Dual gene defects involving delta-aminolaevulinate dehydratase and coproporphyrinogen oxidase in a porphyria patient.
16398658
2006
rs759347283
×
Entrez Id:
1371
Gene Symbol:
CPOX
CPOX
Hereditary Coproporphyria
0.700
GeneticVariation
UNIPROT
Biochemical and genetic characterization of four cases of hereditary coproporphyria in Spain.
15896662
2005
rs759347283
×
Entrez Id:
1371
Gene Symbol:
CPOX
CPOX
Hereditary Coproporphyria
0.700
GeneticVariation
UNIPROT
Two novel mutations and coexistence of the 991C>T and the 1339C>T mutation on a single allele in the coproporphyrinogen oxidase gene in Swedish patients with hereditary coproporphyria.
12181641
2002
rs759347283
×
Entrez Id:
1371
Gene Symbol:
CPOX
CPOX
Hereditary Coproporphyria
0.700
GeneticVariation
UNIPROT
Systematic analysis of coproporphyrinogen oxidase gene defects in hereditary coproporphyria and mutation update.
9888388
1999
rs759347283
×
Entrez Id:
1371
Gene Symbol:
CPOX
CPOX
Hereditary Coproporphyria
0.700
GeneticVariation
UNIPROT
Three novel mutations in the coproporphyrinogen oxidase gene.
8990017
1997
rs759347283
×
Entrez Id:
1371
Gene Symbol:
CPOX
CPOX
Hereditary Coproporphyria
0.700
GeneticVariation
UNIPROT
Hereditary coproporphyria: exon screening by heteroduplex analysis detects three novel mutations in the coproporphyrinogen oxidase gene.
9298818
1997
rs759347283
×
Entrez Id:
1371
Gene Symbol:
CPOX
CPOX
Hereditary Coproporphyria
0.700
GeneticVariation
UNIPROT
A novel missense mutation in exon 4 of the human coproporphyrinogen oxidase gene in two patients with hereditary coproporphyria.
9048920
1997
rs759347283
×
Entrez Id:
1371
Gene Symbol:
CPOX
CPOX
Hereditary Coproporphyria
0.700
GeneticVariation
UNIPROT
A molecular defect in coproporphyrinogen oxidase gene causing harderoporphyria, a variant form of hereditary coproporphyria.
7757079
1995
rs759347283
×
Entrez Id:
1371
Gene Symbol:
CPOX
CPOX
Hereditary Coproporphyria
0.700
GeneticVariation
UNIPROT
Homozygous hereditary coproporphyria caused by an arginine to tryptophane substitution in coproporphyrinogen oxidase and common intragenic polymorphisms.
8012360
1994
rs759347283
×
Entrez Id:
1371
Gene Symbol:
CPOX
CPOX
Hereditary Coproporphyria
0.700
GeneticVariation
UNIPROT
Characterization and expression of cDNA encoding coproporphyrinogen oxidase from a patient with hereditary coproporphyria.
7849704
1994