rs1007859875
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs1057521126
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Identification and expression of mutations in the hydroxymethylbilane synthase gene causing acute intermittent porphyria (AIP).
|
10602775 |
1999 |
rs1057521126
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Detection of a high mutation frequency in exon 12 of the porphobilinogen deaminase gene in patients with acute intermittent porphyria.
|
8262523 |
1993 |
rs1057521126
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Molecular heterogeneity of acute intermittent porphyria: identification of four additional mutations resulting in the CRIM-negative subtype of the disease.
|
1714233 |
1991 |
rs1057521126
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Acute intermittent porphyria--impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties.
|
19292878 |
2009 |
rs1057521126
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Identification and characterization of two novel mutations that produce acute intermittent porphyria: A 3-base deletion (841-843delGGA) and a missense mutation (T35M).
|
11013452 |
2000 |
rs1057521126
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
CRIM-positive mutations of acute intermittent porphyria in Finland.
|
1301948 |
1992 |
rs1057521126
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Conformational stability and activity analysis of two hydroxymethylbilane synthase mutants, K132N and V215E, with different phenotypic association with acute intermittent porphyria.
|
23815679 |
2013 |
rs1057521126
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Molecular study of the hydroxymethylbilane synthase gene (HMBS) among Polish patients with acute intermittent porphyria.
|
11857754 |
2002 |
rs1057521126
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Identification of two novel mutations in the hydroxymethylbilane synthase gene in three patients from two unrelated families with acute intermittent porphyria.
|
9463797 |
1998 |
rs1057521126
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
A novel mutation in the porphobilinogen deaminase gene in an extended Chinese family with acute intermittent porphyria.
|
25870942 |
2015 |
rs1057521126
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutation hotspots in the human porphobilinogen deaminase gene: recurrent mutations G111R and R173Q occurring at CpG motifs.
|
15669678 |
2004 |
rs1057521126
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Acute intermittent porphyria in Finland: 19 mutations in the porphobilinogen deaminase gene.
|
7757070 |
1995 |
rs1057521126
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
New mutations of the hydroxymethylbilane synthase gene in German patients with acute intermittent porphyria.
|
10657149 |
1999 |
rs1057521126
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Four mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria.
|
8825929 |
1995 |
rs1057521126
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Hydroxymethylbilane synthase gene mutations and polymorphisms in Brazilian families with acute intermittent porphyria.
|
25703257 |
2015 |
rs1057521126
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Haplotype analysis of Norwegian and Swedish patients with acute intermittent porphyria (AIP): Extreme haplotype heterogeneity for the mutation R116W.
|
14757946 |
2004 |
rs1057521126
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Genetic investigation of the porphobilinogen deaminase gene in Swedish acute intermittent porphyria families.
|
9225970 |
1997 |
rs1057521126
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias.
|
14669009 |
2004 |
rs1057521126
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
"Acute intermittent porphyria: identification and expression of exonic mutations in the hydroxymethylbilane synthase gene. An initiation codon missense mutation in the housekeeping transcript causes ""variant acute intermittent porphyria"" with normal expression of the erythroid-specific enzyme."
|
7962538 |
1994 |
rs1057521126
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Comparison of complementary and genomic DNA sequencing for the detection of mutations in the HMBS gene in British patients with acute intermittent porphyria: identification of 25 novel mutations.
|
10453740 |
1999 |
rs1165046276
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Identification of two novel mutations in the hydroxymethylbilane synthase gene in three patients from two unrelated families with acute intermittent porphyria.
|
9463797 |
1998 |
rs1165046276
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
CRIM-positive mutations of acute intermittent porphyria in Finland.
|
1301948 |
1992 |
rs1165046276
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Identification and characterization of two novel mutations that produce acute intermittent porphyria: A 3-base deletion (841-843delGGA) and a missense mutation (T35M).
|
11013452 |
2000 |
rs1165046276
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Acute intermittent porphyria in Finland: 19 mutations in the porphobilinogen deaminase gene.
|
7757070 |
1995 |