|
rs118204094
|
|
Acute intermittent porphyria
|
|
0.830 |
GeneticVariation
|
UNIPROT |
A novel mutation in the porphobilinogen deaminase gene in an extended Chinese family with acute intermittent porphyria.
|
25870942 |
2015 |
|
rs118204094
|
|
Acute intermittent porphyria
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Hydroxymethylbilane synthase gene mutations and polymorphisms in Brazilian families with acute intermittent porphyria.
|
25703257 |
2015 |
|
rs118204094
|
|
Acute intermittent porphyria
|
|
0.830 |
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 |
|
rs118204094
|
|
Acute intermittent porphyria
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Acute intermittent porphyria--impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties.
|
19292878 |
2009 |
|
rs118204094
|
|
Acute intermittent porphyria
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias.
|
14669009 |
2004 |
|
rs118204094
|
|
Acute intermittent porphyria
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Mutation hotspots in the human porphobilinogen deaminase gene: recurrent mutations G111R and R173Q occurring at CpG motifs.
|
15669678 |
2004 |
|
rs118204094
|
|
Acute intermittent porphyria
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Haplotype analysis of Norwegian and Swedish patients with acute intermittent porphyria (AIP): Extreme haplotype heterogeneity for the mutation R116W.
|
14757946 |
2004 |
|
rs118204094
|
|
Acute intermittent porphyria
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Molecular study of the hydroxymethylbilane synthase gene (HMBS) among Polish patients with acute intermittent porphyria.
|
11857754 |
2002 |
|
rs118204094
|
|
Acute intermittent porphyria
|
|
0.830 |
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 |
|
rs118204094
|
|
Acute intermittent porphyria
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Identification and expression of mutations in the hydroxymethylbilane synthase gene causing acute intermittent porphyria (AIP).
|
10602775 |
1999 |
|
rs118204094
|
|
Acute intermittent porphyria
|
|
0.830 |
GeneticVariation
|
UNIPROT |
New mutations of the hydroxymethylbilane synthase gene in German patients with acute intermittent porphyria.
|
10657149 |
1999 |
|
rs118204094
|
|
Acute intermittent porphyria
|
|
0.830 |
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 |
|
rs118204094
|
|
Acute intermittent porphyria
|
|
0.830 |
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 |
|
rs118204094
|
|
Acute intermittent porphyria
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Genetic investigation of the porphobilinogen deaminase gene in Swedish acute intermittent porphyria families.
|
9225970 |
1997 |
|
rs118204094
|
|
Acute intermittent porphyria
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Acute intermittent porphyria in Finland: 19 mutations in the porphobilinogen deaminase gene.
|
7757070 |
1995 |
|
rs118204094
|
|
Acute intermittent porphyria
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Four mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria.
|
8825929 |
1995 |
|
rs118204094
|
|
Acute intermittent porphyria
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Molecular analyses of unrelated AIP patients revealed six exonic mutations: an initiating methionine to isoleucine substitution (M1I) in a patient with variant AIP, which precluded translation of the housekeeping, but not the erythroid-specific isozyme; four missense mutations in classical AIP patients, V93F, R116W, R201W, C247F; and a nonsense mutation W283X in a classical AIP patient, which truncated the housekeeping and erythroid-specific isozymes.
|
7962538 |
1994 |
|
rs118204094
|
|
Acute intermittent porphyria
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Detection of a high mutation frequency in exon 12 of the porphobilinogen deaminase gene in patients with acute intermittent porphyria.
|
8262523 |
1993 |
|
rs118204094
|
|
Acute intermittent porphyria
|
|
0.830 |
GeneticVariation
|
UNIPROT |
CRIM-positive mutations of acute intermittent porphyria in Finland.
|
1301948 |
1992 |
|
rs118204094
|
|
Acute intermittent porphyria
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Molecular heterogeneity of acute intermittent porphyria: identification of four additional mutations resulting in the CRIM-negative subtype of the disease.
|
1714233 |
1991 |
|
rs118204094
|
|
Acute intermittent porphyria
|
T |
0.830 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs118204095
|
|
Acute intermittent porphyria
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A novel mutation in the porphobilinogen deaminase gene in an extended Chinese family with acute intermittent porphyria.
|
25870942 |
2015 |
|
rs118204095
|
|
Acute intermittent porphyria
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Hydroxymethylbilane synthase gene mutations and polymorphisms in Brazilian families with acute intermittent porphyria.
|
25703257 |
2015 |
|
rs118204095
|
|
Acute intermittent porphyria
|
|
0.810 |
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 |
|
rs118204095
|
|
Acute intermittent porphyria
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Acute intermittent porphyria--impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties.
|
19292878 |
2009 |