(Q24539186)

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Variegate porphyria in Western Europe: identification of PPOX gene mutations in 104 families, extent of allelic heterogeneity, and absence of correlation between phenotype and type of mutation

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10486317%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

Variegate porphyria in Western Europe: identification of PPOX gene mutations in 104 families, extent of allelic heterogeneity, and absence of correlation between phenotype and type of mutation (English)

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10486317%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

variegate porphyria

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

2

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10486317%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

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S D Whatley

1

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Europe PubMed Central

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31 October 2019

R R Morgan

3

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10486317%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

A M Robreau

4

1 reference

Europe PubMed Central

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31 October 2019

A G Roberts

5

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Europe PubMed Central

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31 October 2019

Y Nordmann

6

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10486317%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

G H Elder

7

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10486317%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

J C Deybach

8

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10486317%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

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1 October 1999

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Europe PubMed Central

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31 October 2019

American Journal of Human Genetics

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10486317%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

65

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10486317%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

4

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10486317%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

984-994

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10486317%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

Human protoporphyrinogen oxidase: expression, purification, and characterization of the cloned enzyme

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288269

24 March 2017

CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288269

24 March 2017

Cloning of a human cDNA for protoporphyrinogen oxidase by complementation in vivo of a hemG mutant of Escherichia coli

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288269

24 March 2017

Systematic analysis of coproporphyrinogen oxidase gene defects in hereditary coproporphyria and mutation update

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288269

24 March 2017

https://api.crossref.org/works/10.1086%2F302586

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular characterization of homozygous variegate porphyria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288269

24 March 2017

The genetic basis of "Scarsdale Gourmet Diet" variegate porphyria: a missense mutation in the protoporphyrinogen oxidase gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288269

24 March 2017

Molecular basis of variegate porphyria: a de novo insertion mutation in the protoporphyrinogen oxidase gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288269

24 March 2017

Mutations in the protoporphyrinogen oxidase gene in patients with variegate porphyria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288269

24 March 2017

Protoporphyrinogen oxidase: complete genomic sequence and polymorphisms in the human gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288269

24 March 2017

A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288269

24 March 2017

The human protoporphyrinogen oxidase gene (PPOX): organization and location to chromosome 1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288269

24 March 2017

Detection and localization of single base changes by denaturing gradient gel electrophoresis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288269

24 March 2017

The mitochondrial location of protoporphyrinogen oxidase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288269

24 March 2017

RNA surveillance. Unforeseen consequences for gene expression, inherited genetic disorders and cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288269

27 September 2017

Identification of an FAD superfamily containing protoporphyrinogen oxidases, monoamine oxidases, and phytoene desaturase. Expression and characterization of phytoene desaturase of Myxococcus xanthus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288269

27 September 2017

Molecular basis of variegate porphyria: a missense mutation in the protoporphyrinogen oxidase gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288269

27 September 2017

Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288269

27 September 2017

Partial characterization and assignment of the gene for protoporphyrinogen oxidase and variegate porphyria to human chromosome 1q23.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288269

27 September 2017

Variegate porphyria. Twelve years' experience in Finland.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288269

27 September 2017

Homozygous variegate porphyria: identification of mutations on both alleles of the protoporphyrinogen oxidase gene in a severely affected proband

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288269

30 May 2018

Variegate porphyria: identification of a nonsense mutation in the protoporphyrinogen oxidase gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288269

30 May 2018

Variegate porphyria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288269

30 May 2018

The South African malady

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288269

30 May 2018

Identification and characterisation of a deletion (537delAT) in the protoporphyrinogen oxidase gene in a South African variegate porphyria family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288269

29 November 2018

Molecular analysis reveals a high mutation frequency in the first untranslated exon of the PPOX gene and largely excludes variegate porphyria in a subset of clinically affected Afrikaner families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288269

29 November 2018

Linkage disequilibrium analysis in a recently founded population: evaluation of the variegate porphyria founder in South African Afrikaners

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288269

29 November 2018

The acute porphyrias

1 reference

https://pubmed.ncbi.nlm.nih.gov/10486317

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The enzymatic defect in variegate prophyria. Studies with human cultured skin fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/10486317

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The hepatic porphyrias: experience with 105 cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/10486317

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Variegate porphyria: diagnostic value of fluorometric scanning of plasma porphyrins

1 reference

https://pubmed.ncbi.nlm.nih.gov/10486317

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of three mutations and associated haplotypes in the protoporphyrinogen oxidase gene in South African families with variegate porphyria

1 reference

https://pubmed.ncbi.nlm.nih.gov/10486317

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Recurrent missense mutation in the protoporphyrinogen oxidase gene underlies variegate porphyria

1 reference

https://pubmed.ncbi.nlm.nih.gov/10486317

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Blind Analysis of Denaturing High-Performance Liquid Chromatography as a Tool for Mutation Detection

1 reference

https://pubmed.ncbi.nlm.nih.gov/10486317

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Flexibility of the neck region of the rieske iron-sulfur protein is functionally important in the cytochrome bc1 complex

1 reference

https://pubmed.ncbi.nlm.nih.gov/10486317

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evaluation of mutation screening by heteroduplex analysis in acute intermittent porphyria: comparison with denaturing gradient gel electrophoresis

1 reference

https://pubmed.ncbi.nlm.nih.gov/10486317

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/10486317

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A plasma porphyrin fluorescence marker for variegate porphyria

1 reference

https://pubmed.ncbi.nlm.nih.gov/10486317

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The clinical and biochemical features of variegate porphyria: an analysis of 300 cases studied at Groote Schuur Hospital, Cape Town

1 reference

https://pubmed.ncbi.nlm.nih.gov/10486317

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Computational simulation of DNA melting and its application to denaturing gradient gel electrophoresis

1 reference

https://pubmed.ncbi.nlm.nih.gov/10486317

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of latent variegate porphyria by fluorescence emission spectroscopy of plasma

1 reference

https://pubmed.ncbi.nlm.nih.gov/10486317

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[31] Detection and localization of single base changes by denaturing gradient gel electrophoresis

1 reference

https://api.crossref.org/works/10.1086%2F302586

7 January 2021

based on heuristic

inferred from DOI database lookup

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2 references

Consolidated OpenCitations Corpus – April 2017

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10486317%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

OpenCitations bibliographic resource ID

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Consolidated OpenCitations Corpus – April 2017

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2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10486317%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

PubMed publication ID

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10486317%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

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