Condition: Acute intermittent porphyria


rs1057521126 in HMBS gene and Acute intermittent porphyria PMID 7757070 1995 Acute intermittent porphyria in Finland: 19 mutations in the porphobilinogen deaminase gene.

PMID 9225970 1997 Genetic investigation of the porphobilinogen deaminase gene in Swedish acute intermittent porphyria families.

PMID 10657149 1999 New mutations of the hydroxymethylbilane synthase gene in German patients with acute intermittent porphyria.

PMID 8262523 1993 Detection of a high mutation frequency in exon 12 of the porphobilinogen deaminase gene in patients with acute intermittent porphyria.

PMID 23815679 2013 Conformational stability and activity analysis of two hydroxymethylbilane synthase mutants, K132N and V215E, with different phenotypic association with acute intermittent porphyria.

PMID 10453740 1999 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.

PMID 25870942 2015 A novel mutation in the porphobilinogen deaminase gene in an extended Chinese family with acute intermittent porphyria.

PMID 8825929 1995 Four mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria.

PMID 7962538 1994 "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."

PMID 15669678 2004 Mutation hotspots in the human porphobilinogen deaminase gene: recurrent mutations G111R and R173Q occurring at CpG motifs.

PMID 14757946 2004 Haplotype analysis of Norwegian and Swedish patients with acute intermittent porphyria (AIP): Extreme haplotype heterogeneity for the mutation R116W.

PMID 1714233 1991 Molecular heterogeneity of acute intermittent porphyria: identification of four additional mutations resulting in the CRIM-negative subtype of the disease.

PMID 19292878 2009 Acute intermittent porphyria--impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties.

PMID 1301948 1992 CRIM-positive mutations of acute intermittent porphyria in Finland.

PMID 11013452 2000 Identification and characterization of two novel mutations that produce acute intermittent porphyria: A 3-base deletion (841-843delGGA) and a missense mutation (T35M).

PMID 9463797 1998 Identification of two novel mutations in the hydroxymethylbilane synthase gene in three patients from two unrelated families with acute intermittent porphyria.

PMID 25703257 2015 Hydroxymethylbilane synthase gene mutations and polymorphisms in Brazilian families with acute intermittent porphyria.

PMID 10602775 1999 Identification and expression of mutations in the hydroxymethylbilane synthase gene causing acute intermittent porphyria (AIP).

PMID 14669009 2004 Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias.

PMID 11857754 2002 Molecular study of the hydroxymethylbilane synthase gene (HMBS) among Polish patients with acute intermittent porphyria.

PMID 7962538 1994 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.

PMID 14757946 2004 Haplotype analysis of Norwegian and Swedish patients with acute intermittent porphyria (AIP): Extreme haplotype heterogeneity for the mutation R116W.

PMID 15669678 2004 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.

PMID 26075277 2015 Acute intermittent porphyria in Argentina: an update.

PMID 12372055 2002 Acute intermittent porphyria in Sweden. Molecular, functional and clinical consequences of some new mutations found in the porphobilinogen deaminase gene.

PMID 8270256 1994 Two new mutations in the porphobilinogen deaminase gene and a screening method using PCR amplification of specific alleles.

PMID 7962538 1994 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.

PMID 23815679 2013 Conformational stability and activity analysis of two hydroxymethylbilane synthase mutants, K132N and V215E, with different phenotypic association with acute intermittent porphyria.