rs118204096
|
|
Acute intermittent porphyria
|
A |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
rs118204096
|
|
Acute intermittent porphyria
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular heterogeneity of acute intermittent porphyria: identification of four additional mutations resulting in the CRIM-negative subtype of the disease.
|
1714233 |
1991 |
rs118204096
|
|
Acute intermittent porphyria
|
|
0.800 |
GeneticVariation
|
UNIPROT |
CRIM-positive mutations of acute intermittent porphyria in Finland.
|
1301948 |
1992 |
rs118204096
|
|
Acute intermittent porphyria
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Detection of a high mutation frequency in exon 12 of the porphobilinogen deaminase gene in patients with acute intermittent porphyria.
|
8262523 |
1993 |
rs118204096
|
|
Acute intermittent porphyria
|
|
0.800 |
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 |
rs118204096
|
|
Acute intermittent porphyria
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Four mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria.
|
8825929 |
1995 |
rs118204096
|
|
Acute intermittent porphyria
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Acute intermittent porphyria in Finland: 19 mutations in the porphobilinogen deaminase gene.
|
7757070 |
1995 |
rs118204096
|
|
Acute intermittent porphyria
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Genetic investigation of the porphobilinogen deaminase gene in Swedish acute intermittent porphyria families.
|
9225970 |
1997 |
rs118204096
|
|
Acute intermittent porphyria
|
|
0.800 |
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 |
rs118204096
|
|
Acute intermittent porphyria
|
|
0.800 |
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 |
rs118204096
|
|
Acute intermittent porphyria
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification and expression of mutations in the hydroxymethylbilane synthase gene causing acute intermittent porphyria (AIP).
|
10602775 |
1999 |
rs118204096
|
|
Acute intermittent porphyria
|
|
0.800 |
GeneticVariation
|
UNIPROT |
New mutations of the hydroxymethylbilane synthase gene in German patients with acute intermittent porphyria.
|
10657149 |
1999 |
rs118204096
|
|
Acute intermittent porphyria
|
|
0.800 |
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 |
rs118204096
|
|
Acute intermittent porphyria
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular study of the hydroxymethylbilane synthase gene (HMBS) among Polish patients with acute intermittent porphyria.
|
11857754 |
2002 |
rs118204096
|
|
Acute intermittent porphyria
|
|
0.800 |
GeneticVariation
|
UNIPROT |
To study the origin of these common CpG mutations, eight intragenic single-nucleotide polymorphisms (SNPs) in the PBGD gene, as well as eight microsatellites flanking the gene in chromosome 11 were used to construct haplotypes in six AIP families of German, Polish and Swiss origins who carried either G111R (4707G>A) or R173Q (6391G>A) mutations.
|
15669678 |
2004 |
rs118204096
|
|
Acute intermittent porphyria
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Haplotype analysis of Norwegian and Swedish patients with acute intermittent porphyria (AIP): Extreme haplotype heterogeneity for the mutation R116W.
|
14757946 |
2004 |
rs118204096
|
|
Acute intermittent porphyria
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias.
|
14669009 |
2004 |
rs118204096
|
|
Acute intermittent porphyria
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Acute intermittent porphyria--impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties.
|
19292878 |
2009 |
rs118204096
|
|
Acute intermittent porphyria
|
|
0.800 |
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 |
rs118204096
|
|
Acute intermittent porphyria
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel mutation in the porphobilinogen deaminase gene in an extended Chinese family with acute intermittent porphyria.
|
25870942 |
2015 |
rs118204096
|
|
Acute intermittent porphyria
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Hydroxymethylbilane synthase gene mutations and polymorphisms in Brazilian families with acute intermittent porphyria.
|
25703257 |
2015 |