(Q28201759)

English

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

scientific article published on September 1, 1992

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scholarly article

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

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acute intermittent porphyria

1 reference

based on heuristic

inferred from title

author name string

C. S. Mgone

1

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1427766

25 September 2022

W. G. Lanyon

2

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1427766

25 September 2022

M. R. Moore

3

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1427766

25 September 2022

J. M. Connor

4

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1427766

25 September 2022

language of work or name

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publication date

1992

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September 1992

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National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1427766

25 September 2022

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90

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1-2

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12-6

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Rat porphobilinogen deaminase cDNA: nucleotide sequence of the erythropoletic form

1 reference

https://pubmed.ncbi.nlm.nih.gov/1427766

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular cloning and complete primary sequence of human erythrocyte porphobilinogen deaminase

1 reference

https://pubmed.ncbi.nlm.nih.gov/1427766

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The mouse porphobilinogen deaminase gene. Structural organization, sequence, and transcriptional analysis.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1427766

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Linkage disequilibrium between DNA polymorphisms within the porphobilinogen deaminase gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/1427766

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

RFLP analysis of three different types of acute intermittent porphyria

1 reference

https://pubmed.ncbi.nlm.nih.gov/1427766

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1427766

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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://pubmed.ncbi.nlm.nih.gov/1427766

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

1 reference

https://pubmed.ncbi.nlm.nih.gov/1427766

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Use of denaturing gradient gel electrophoresis to detect point mutations in the factor VIII gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/1427766

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Isolation and characterisation of a cDNA clone for a chlorophyll synthesis enzyme from Euglena gracilis. The chloroplast enzyme hydroxymethylbilane synthase (porphobilinogen deaminase) is synthesised with a very long transit peptide in Euglena

1 reference

https://pubmed.ncbi.nlm.nih.gov/1427766

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1427766

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1427766

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1427766

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Increased erythrocyte uroporphyrinogen-l-synthetase, delta-aminolevulinic acid dehydratase and protoporphyrin in hemolytic anemias

1 reference

https://pubmed.ncbi.nlm.nih.gov/1427766

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1427766

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rat Insulin Genes: Construction of Plasmids Containing the Coding Sequences

1 reference

https://pubmed.ncbi.nlm.nih.gov/1427766

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Modified erythrocyte uroporphyrinogen I synthase assay, and its clinical interpretation

1 reference

https://pubmed.ncbi.nlm.nih.gov/1427766

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tissue-specific splicing mutation in acute intermittent porphyria.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1427766

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1427766

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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://pubmed.ncbi.nlm.nih.gov/1427766

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Empirical Predictions of Protein Conformation

1 reference

https://pubmed.ncbi.nlm.nih.gov/1427766

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1427766

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1427766

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular genetics of porphyrias

1 reference

https://pubmed.ncbi.nlm.nih.gov/1427766

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An integrated family of amino acid sequence analysis programs.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1427766

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1427766

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/1427766

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00210738

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Springer Nature article ID

10.1007/bf00210738

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