(Q28307580)

https://api.crossref.org/works/10.1002%2FHUMU.1380040403

Mutagenesis of arginine residues in the catalytic cleft of Escherichia coli porphobilinogen deaminase that affects dipyrromethane cofactor assembly and tetrapyrrole chain initiation and elongation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040403

Normal erythrocyte uroporphyrinogen I synthase in a kindred with acute intermittent porphyria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040403

Characterization of the porphobilinogen deaminase deficiency in acute intermittent porphyria. Immunologic evidence for heterogeneity of the genetic defect

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040403

7 January 2021

Restriction sites containing CpG show a higher frequency of polymorphism in human DNA

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040403

7 January 2021

Recurrence risk estimation of acute intermittent porphyria based on analysis of porphobilinogen deaminase activity: a Bayesian approach.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040403

7 January 2021

Alternative transcription and splicing of the human porphobilinogen deaminase gene result either in tissue-specific or in housekeeping expression.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040403

7 January 2021

The CpG dinucleotide and human genetic disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040403

7 January 2021

Acute intermittent porphyria caused by a G to C mutation in exon 12 of the porphobilinogen deaminase gene that results in exon skipping

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040403

7 January 2021

Two different point G to A mutations in exon 10 of the porphobilinogen deaminase gene are responsible for acute intermittent porphyria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040403

7 January 2021

Acute intermittent porphyria: characterization of a novel mutation in the structural gene for porphobilinogen deaminase. Demonstration of noncatalytic enzyme intermediates stabilized by bound substrate

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040403

7 January 2021

Molecular genetics of disorders of haem biosynthesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040403

7 January 2021

Molecular cloning of a cDNA sequence complementary to porphobilinogen deaminase mRNA from rat

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040403

7 January 2021

Tissue-specific expression of porphobilinogen deaminase. Two isoenzymes from a single gene.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040403

7 January 2021

Molecular analysis of acute intermittent porphyria in a Finnish family with normal erythrocyte porphobilinogen deaminase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040403

7 January 2021

A point mutation G----A in exon 12 of the porphobilinogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040403

7 January 2021

Tissue-specific splicing mutation in acute intermittent porphyria.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040403

7 January 2021

PCR detection of a G/T polymorphism at exon 10 of the porphobilinogen deaminase gene (PBG-D).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040403

7 January 2021

High prevalence of a point mutation in the porphobilinogen deaminase gene in Dutch patients with acute intermittent porphyria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040403

7 January 2021

Two novel mutations of the porphobilinogen deaminase gene in acute intermittent porphyria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040403

7 January 2021

Detection of eleven mutations causing acute intermittent porphyria using denaturing gradient gel electrophoresis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040403

7 January 2021

Single-strand conformation polymorphism (SSCP) analysis applied to the diagnosis of acute intermittent porphyria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040403

7 January 2021

RFLP analysis of three different types of acute intermittent porphyria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040403

7 January 2021

CRIM-positive mutations of acute intermittent porphyria in Finland

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040403

7 January 2021

A PstI polymorphism for the human porphobilinogen deaminase gene (PBG).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040403

7 January 2021

Identification of the most common mutation within the porphobilinogen deaminase gene in Swedish patients with acute intermittent porphyria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040403

7 January 2021

DNA polymorphisms within the porphobilinogen deaminase gene in two Swedish families with acute intermittent porphyria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040403

7 January 2021

Haplotyping of the human porphobilinogen deaminase gene in acute intermittent porphyria by polymerase chain reaction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040403

7 January 2021

Genetic heterogeneity of the porphobilinogen deaminase gene in Swedish families with acute intermittent porphyria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040403

7 January 2021

DNA polymorphism of human porphobilinogen deaminase gene in acute intermittent porphyria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040403

7 January 2021

A MspI polymorphism for the human porphobilinogen deaminase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040403

7 January 2021

Homozygous acute intermittent porphyria: compound heterozygosity for adjacent base transitions in the same codon of the porphobilinogen deaminase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040403

7 January 2021

Acute intermittent porphyria caused by an arginine to histidine substitution (R26H) in the cofactor-binding cleft of porphobilinogen deaminase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040403

7 January 2021

Structure of porphobilinogen deaminase reveals a flexible multidomain polymerase with a single catalytic site

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040403

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040403

7 January 2021

Screening for latent acute intermittent porphyria: the value of measuring both leucocyte delta-aminolaevulinic acid synthase and erythrocyte uroporphyrinogen-1-synthase activities

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040403

7 January 2021

The UPS locus encoding uroporphyrinogen I synthase is located on human chromosome 11

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040403

7 January 2021

Intermittent Acute Porphyria — Demonstration of a Genetic Defect in Porphobilinogen Metabolism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040403

7 January 2021

Detection of seven point mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria, by direct sequencing of in vitro amplified cDNA

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040403

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040403

7 January 2021

Cis- and trans-acting elements involved in the regulation of the erythroid promoter of the human porphobilinogen deaminase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040403

7 January 2021

Two tissue-specific factors bind the erythroid promoter of the human porphobilinogen deaminase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040403

7 January 2021

Genetic heterogeneity in acute intermittent porphyria: characterisation and frequency of porphobilinogen deaminase mutations in Finland

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040403

7 January 2021

Assignment of human porphobilinogen deaminase to 11q24.1----q24.2 by in situ hybridization and gene dosage studies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040403

7 January 2021

Molecular genetics of porphyrias

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040403

7 January 2021

PCR detection of a C/T polymorphism in exon 1 of the porphobilinogen deaminase gene (PBGD)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040403

7 January 2021

Molecular cloning and complete primary sequence of human erythrocyte porphobilinogen deaminase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040403

7 January 2021

Heme biosynthesis in intermittent acute prophyria: decreased hepatic conversion of porphobilinogen to porphyrins and increased delta aminolevulinic acid synthetase activity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040403

7 January 2021

Decreased Red Cell Uroporphyrinogen I Synthetase Activity in Intermittent Acute Porphyria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040403

7 January 2021

Rat porphobilinogen deaminase cDNA: nucleotide sequence of the erythropoletic form

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040403

7 January 2021

Nucleotide sequence of the hemC locus encoding porphobilinogen deaminase of Escherichia coli K12.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040403

7 January 2021

Regional gene assignment of human porphobilinogen deaminase and esterase A4 to chromosome 11q23 leads to 11qter

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040403

7 January 2021

Hydroxymethylbilane synthase: complete genomic sequence and amplifiable polymorphisms in the human gene.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040403

7 January 2021