(Q28145498)

English

Molecular aspects of the inherited porphyrias

scientific article (publication date: February 2000)

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title

Molecular aspects of the inherited porphyrias (English)

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2

A Kappas

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Shigeru Sassa

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1

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S Sassa

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language of work or name

English

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publication date

February 2000

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published in

Journal of Internal Medicine

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volume

247

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page(s)

169-78

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issue

2

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cites work

X-ray structure of 5-aminolevulinic acid dehydratase from Escherichia coli complexed with the inhibitor levulinic acid at 2.0 A resolution

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reference URL

https://api.crossref.org/works/10.1046/J.1365-2796.2000.00618.X

retrieved

21 April 2017

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

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21 April 2017

Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria

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reference URL

https://api.crossref.org/works/10.1046/J.1365-2796.2000.00618.X

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21 April 2017

Ferrochelatase structural mutant (Fechm1Pas) in the house mouse

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https://api.crossref.org/works/10.1046/J.1365-2796.2000.00618.X

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21 April 2017

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

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reference URL

https://api.crossref.org/works/10.1046%2FJ.1365-2796.2000.00618.X

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21 January 2018

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

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https://api.crossref.org/works/10.1046%2FJ.1365-2796.2000.00618.X

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21 January 2018

The three-dimensional structures of mutants of porphobilinogen deaminase: toward an understanding of the structural basis of acute intermittent porphyria

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reference URL

https://api.crossref.org/works/10.1046%2FJ.1365-2796.2000.00618.X

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21 January 2018

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

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reference URL

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retrieved

21 January 2018

Molecular genetics of congenital erythropoietic porphyria

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https://api.crossref.org/works/10.1046%2FJ.1365-2796.2000.00618.X

retrieved

21 January 2018

Gene transfer of the uroporphyrinogen III synthase cDNA into haematopoietic progenitor cells in view of a future gene therapy in congenital erythropoietic porphyria

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reference URL

https://api.crossref.org/works/10.1046%2FJ.1365-2796.2000.00618.X

retrieved

21 January 2018

Coproporphyrinogen oxidase: gene organization and description of a mutation leading to exon 6 skipping

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reference URL

https://api.crossref.org/works/10.1046%2FJ.1365-2796.2000.00618.X

retrieved

21 January 2018

Human ferrochelatase is an iron-sulfur protein.

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Crossref

reference URL

https://api.crossref.org/works/10.1046%2FJ.1365-2796.2000.00618.X

retrieved

21 January 2018

Crystal structure of ferrochelatase: the terminal enzyme in heme biosynthesis

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reference URL

https://api.crossref.org/works/10.1046%2FJ.1365-2796.2000.00618.X

retrieved

21 January 2018

Erythropoietic protoporphyria in the house mouse. A recessive inherited ferrochelatase deficiency with anemia, photosensitivity, and liver disease

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reference URL

https://api.crossref.org/works/10.1046%2FJ.1365-2796.2000.00618.X

retrieved

21 January 2018

Porphobilinogen deaminase deficiency in mice causes a neuropathy resembling that of human hepatic porphyria

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reference URL

https://api.crossref.org/works/10.1046%2FJ.1365-2796.2000.00618.X

retrieved

21 January 2018

Identifiers

DOI

10.1046/J.1365-2796.2000.00618.X

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PubMed ID

10692079

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ResearchGate publication ID

12623659

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(Q28145498)

Molecular aspects of the inherited porphyrias

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