(Q28291727)

https://api.crossref.org/works/10.1007%2FBF02110034

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/10.1007%2FBF02110034

Studies on the mechanism of hydroxymethylbilane synthase concerning the role of arginine residues in substrate binding

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF02110034

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF02110034

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

21 January 2018

1 reference

12 December 2020

Molecular cloning and complete primary sequence of human erythrocyte porphobilinogen deaminase

1 reference

12 December 2020

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

12 December 2020

Localization of the uroporphyrinogen I synthase locus to human chromosome region 11q13→qter and interconversion of enzyme isomers

1 reference

12 December 2020

Molecular basis of acute intermittent porphyria: mutations and polymorphisms in the human hydroxymethylbilane synthase gene

1 reference

12 December 2020

Identification of five novel mutations in the porphobilinogen deaminase gene.

1 reference

12 December 2020

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

1 reference

12 December 2020

RFLP analysis of three different types of acute intermittent porphyria

1 reference

12 December 2020

DNA polymorphism of human porphobilinogen deaminase gene in acute intermittent porphyria

1 reference

12 December 2020

Initiation of transcription of the erythroid promoter of the porphobilinogen deaminase gene is regulated by a cis-acting sequence around the cap site

1 reference

12 December 2020

A retrospective study of a patient with homozygous form of acute intermittent porphyria

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

12 December 2020

The rapid detection of unknown mutations in nucleic acids.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Denaturing gradient gel electrophoresis for rapid detection of latent carriers of a subtype of acute intermittent porphyria with normal erythrocyte porphobilinogen deaminase activity

1 reference

12 December 2020

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

1 reference

12 December 2020

The serum porphobilinogen and hepatic porphobilinogen deaminase in normal and porphyric individuals

1 reference

12 December 2020

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

1 reference

12 December 2020

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

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Acute intermittent porphyria caused by a single base insertion of C in exon 15 of the porphobilinogen deaminase gene that results in a frame shift and premature stopping of translation

1 reference

12 December 2020

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

1 reference

12 December 2020

Molecular genetics of disorders of haem biosynthesis

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

CRIM-positive mutations of acute intermittent porphyria in Finland

1 reference

12 December 2020

High frequency of mutations in exon 10 of the porphobilinogen deaminase gene in patients with a CRIM-positive subtype of acute intermittent porphyria

1 reference

12 December 2020

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

1 reference

12 December 2020

Biochemistry of porphyria

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Tissue-specific splicing mutation in acute intermittent porphyria.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

12 December 2020

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

1 reference

12 December 2020

Frameshift mutations in exons 9 and 10 of the porphobilinogen deaminase gene produce a crossreacting immunological material (CRIM)-negative form of acute intermittent porphyria

1 reference

12 December 2020

Family evaluations in acute intermittent porphyria using red cell uroporphyrinogen I synthetase

1 reference

12 December 2020

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

1 reference

12 December 2020

Acute intermittent porphyria caused by a C----T mutation that produces a stop codon in the porphobilinogen deaminase gene

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Assignment of human uroporphyrinogen I synthase locus to region 11qter by gene dosage effect

1 reference

12 December 2020

Rare structural variants of human and murine uroporphyrinogen I synthase

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Identification of the mutations in the parents of a patient with a putative compound heterozygosity for acute intermittent porphyria

1 reference

12 December 2020

Studies on the incidence and heredity of acute porphyria in Sweden

1 reference

12 December 2020

Purification and properties of uroporphyrinogen I synthase from human erythrocytes. Identification of stable enzyme-substrate intermediates

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Acute intermittent porphyria in The Netherlands. Heterogeneity of the enzyme porphobilinogen deaminase

1 reference

12 December 2020

A MspI polymorphism for the human porphobilinogen deaminase gene

1 reference

12 December 2020