Acute intermittent porphyria
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Direct sequencing of genomic DNA samples of 11 unrelated Russian AIP patients, 32 of their relatives and 50 healthy controls from northwestern Russia including Saint Petersburg revealed nine mutations in the HMBS gene.
|
16211556 |
2005 |
Acute intermittent porphyria
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
High frequency of mutations in exon 10 of the porphobilinogen deaminase gene in patients with a CRIM-positive subtype of acute intermittent porphyria.
|
1496994 |
1992 |
Acute intermittent porphyria
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Our results define the extent of allelic heterogeneity and the types (41% missense; 59% truncating) and distribution (35% in exons 10, 12, 14) of HMBS mutations, for AIP in the United Kingdom.
|
10453740 |
1999 |
Acute intermittent porphyria
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
The PBGD gene of 18 Swiss AIP patients was analyzed by denaturing gradient gel electrophoresis screening of the genomic DNA and direct sequencing.
|
10782018 |
2000 |
Acute intermittent porphyria
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Acute intermittent porphyria (AIP) is attributable to defects in the porphobilinogen deaminase (PBGD) gene.
|
8270256 |
1994 |
Acute intermittent porphyria
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Acute intermittent porphyria caused by an arginine to histidine substitution (R26H) in the cofactor-binding cleft of porphobilinogen deaminase.
|
8401516 |
1993 |
Acute intermittent porphyria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Detection of a R173W mutation in the porphobilinogen deaminase gene in the Nova Scotian "foreign Protestant" population with acute intermittent porphyria: a founder effect.
|
9455613 |
1997 |
Acute intermittent porphyria
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
Acute intermittent porphyria: novel missense mutations in the human hydroxymethylbilane synthase gene.
|
11399210 |
2008 |
Acute intermittent porphyria
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Homozygous acute intermittent porphyria in a 7-year-old boy with massive excretions of porphyrins and porphyrin precursors.
|
14970743 |
2004 |
Acute intermittent porphyria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Difficulties with the biochemical diagnosis could be overcome by the ability to identify the PBGD gene defects in AIP patients.
|
7592566 |
1995 |
Acute intermittent porphyria
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Although more than 170 different mutations are known to the HMBS gene so far, over 40% of all mutations identified among the Polish AIP patients of this study are novel mutations, indicating the heterogeneity of molecular defects causing AIP.
|
11857754 |
2002 |
Acute intermittent porphyria
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
We have studied the porphobilinogen deaminase gene transcripts from seven unrelated patients from the West of Scotland, all suffering from acute intermittent porphyria.
|
8081367 |
1994 |
Acute intermittent porphyria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Acute intermittent porphyria (AIP) is attributable to defects in the porphobilinogen deaminase (PBGD) gene.
|
8270256 |
1994 |
Acute intermittent porphyria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
May 2006 update in porphobilinogen deaminase gene polymorphisms and mutations causing acute intermittent porphyria: comparison with the situation in Slavic population.
|
17298216 |
2006 |
Acute intermittent porphyria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We used heteroduplex analysis to screen for mutations in the porphobilinogen deaminase gene in 21 patients with acute intermittent porphyria (AIP).
|
7635464 |
1995 |
Acute intermittent porphyria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
High frequency of mutations in exon 10 of the porphobilinogen deaminase gene in patients with a CRIM-positive subtype of acute intermittent porphyria.
|
1496994 |
1992 |
Acute intermittent porphyria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A single base insertion of C in exon 15 of the porphobilinogen deaminase (PBG-D) gene was observed in a patient with acute intermittent porphyria (AIP) by polymerase chain reaction (PCR)-direct sequencing analysis.
|
8168829 |
1994 |
Acute intermittent porphyria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Previous haplotype analysis combined with genealogical data suggested a common origin of the PBGD gene mutation in the AIP families originating from northern Sweden (Lappland), where the highest prevalence of the disease (1 in 1500) is observed.
|
1961762 |
1991 |
Acute intermittent porphyria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
An inherited deficiency of porphobilinogen deaminase [porphobilinogen ammonia-lyase (polymerizing), EC 4.3.1.8] in humans is responsible for the autosomal dominant disease acute intermittent porphyria.
|
2563167 |
1989 |
Acute intermittent porphyria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Three splicing defects (IVS1+3G-->T, 86A-->T, IVS13-2A-->G), an insertion (416insCA), and two missense mutations (664G-->A and 833T-->G) in the porphobilinogen deaminase (PBGD) gene were identified in six unrelated Finnish patients with acute intermittent porphyria (AIP).
|
9654202 |
1998 |
Acute intermittent porphyria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To investigate the dramatically different manifestations, knock-in mice with human HD-AIP missense mutations c.500G>A (p.Arg167Glu) or c.518_519GC>AG (p.Arg173Glu), designated R167Q or R173Q mice, respectively, were generated and compared with the previously established T1/T2 mice with ~30% residual HMBS activity and the heterozygous AIP phenotype.
|
30615115 |
2019 |
Acute intermittent porphyria
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
The present communication encompasses the great majority of AIP kindreds in Sweden and includes a further 27 mutations within the PBGD gene.
|
12372055 |
2002 |
Acute intermittent porphyria
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Porphobilinogen deaminase mutants that cause acute intermittent porphyria have been investigated as recombinant proteins expressed in Escherichia coli, yielding important insight into the mechanism of dipyrromethane cofactor assembly and tetrapyrrole chain polymerization.
|
12773194 |
2003 |
Acute intermittent porphyria
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Our results demonstrate the allelic heterogeneity of HMBS mutations in AIP patients of German origin.
|
10657149 |
1999 |
Acute intermittent porphyria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Knowledge of the nature of the HMBS mutations causing AIP in Spanish families is very limited.
|
15469427 |
2004 |