Molecular basis of variegate porphyria: a missense mutation in the protoporphyrinogen oxidase gene (Q33680409)

28 July 2017

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

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28 July 2017

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Frank J

1

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28 July 2017

Lam H

2

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28 July 2017

Zaider E

3

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28 July 2017

Poh-Fitzpatrick M

4

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28 July 2017

Christiano AM

5

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28 July 2017

language of work or name

English

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publication date

1 March 1998

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Journal of Medical Genetics

28 July 2017

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28 July 2017

35

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28 July 2017

3

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28 July 2017

244-247

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

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051251

Mutations in the protoporphyrinogen oxidase gene in patients with variegate porphyria

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051251

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051251

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051251

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051251

Familial adenomatous polyposis (Gardner's syndrome) and thyroid carcinoma. A case report and review of the literature

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051251

Homozygous variegate porphyria: an evolving clinical syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051251

Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051251

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051251

Homozygous variegate porphyria: a case report

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051251

Identification of FAP locus genes from chromosome 5q21

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051251

Identification and characterization of the familial adenomatous polyposis coli gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051251

Cloning and characterization of the Bacillus subtilis hemEHY gene cluster, which encodes protoheme IX biosynthetic enzymes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051251

Induction of terminal enzymes for heme biosynthesis during differentiation of mouse erythroleukemia cells.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051251

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

30 October 2018

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12 December 2020

Carcinoma of the colon, ampulla of Vater and urinary bladder associated with familial multiple polyposis: a case report

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Acute variegate porphyria following a Scarsdale Gourmet Diet

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12 December 2020

Hepatoblastoma, pigmented ocular fundus lesions and jaw lesions in Gardner syndrome

1 reference

12 December 2020

The risk of upper gastrointestinal cancer in familial adenomatous polyposis

1 reference

12 December 2020

A novel splicing mutation in the ferrochelatase gene responsible for erythropoietic protoporphyria

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.35.3.244

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28 July 2017

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28 July 2017

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