A molecular defect in human protoporphyria (Q24292801)

response to light stimulus

GOA release 2020-03-11

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GOA release 2020-03-11

author name string

D. A. Brenner

1

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19 September 2022

J. M. Didier

2

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19 September 2022

F. Frasier

3

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19 September 2022

S. R. Christensen

4

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19 September 2022

G. A. Evans

5

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19 September 2022

H. A. Dailey

6

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full work available at URL

19 September 2022

language of work or name

English

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publication date

June 1992

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https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1376018/pdf/?tool=EBI

file format

Portable Document Format

online access status

open access

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https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1376018/?tool=EBI

19 September 2022

1 reference

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https://europepmc.org/articles/PMC1682545

19 September 2022

1 reference

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https://europepmc.org/articles/PMC1682545?pdf=render

19 September 2022

file format

Portable Document Format

online access status

open access

content deliverer

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1376018

American Journal of Human Genetics

19 September 2022

published in

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volume

50

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issue

6

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page(s)

1203-10

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cites work

Expression and chromosomal localization of a lymphocyte K+ channel gene

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Heme synthetase deficiency in human protoporphyria. Demonstration of the defect in liver and cultured skin fibroblasts

19 March 2017

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Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

19 March 2017

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A simple and very efficient method for generating cDNA libraries

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Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

19 March 2017

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The ferrochelatase from Saccharomyces cerevisiae. Sequence, disruption, and expression of its structural gene HEM15.

19 March 2017

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High-resolution mapping of human chromosome 11 by in situ hybridization with cosmid clones

19 March 2017

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Human Erythropoietic Protoporphyria: Two point mutations in the ferrochelatase gene

19 March 2017

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Dideoxy sequencing method using denatured plasmid templates

19 March 2017

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Genetic aspects of erythropoietic protoporphyria

7 April 2017

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Molecular cloning, sequencing, and expression of mouse ferrochelatase.

27 September 2017

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Immunochemical studies of ferrochelatase protein: characterization of the normal and mutant protein in bovine and human protoporphyria

27 September 2017

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Assignment of the human ferrochelatase gene (FECH) and a locus for protoporphyria to chromosome 18q22.

27 September 2017

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Cloning of murine ferrochelatase

27 September 2017

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Erythropoietic protoporphyria, heterozygous cystinuria, and reduced peptidase A activity in a patient with 46,XX/46,XX,18q--mosaicism

27 September 2017

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Inheritance in protoporphyria. Comparison of haem synthetase activity in skin fibroblasts with clinical features

27 September 2017

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Rat liver ferrochelatase. Purification, properties, and stimulation by fatty acids

27 September 2017

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Acetaldehyde increases collagen gene transcription in cultured human fibroblasts.

30 May 2018

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The synthesis of murine ferrochelatase in vitro and in vivo

30 May 2018

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Tightly regulated tac promoter vectors useful for the expression of unfused and fused proteins in Escherichia coli

30 May 2018

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Liver transplantation in a patient with protoporphyria.

30 May 2018

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Cosmid vectors for genomic walking and rapid restriction mapping

30 May 2018

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The functional size of ferrochelatase determined in situ by radiation inactivation

30 May 2018

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Early involvement of hepatic parenchymal cells in erythrohepatic protoporphyria? An ultrastructural study of patients with and without overt liver disease and the effect of chenodeoxycholic acid treatment

30 May 2018

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12 December 2020

Diminished erythroid ferrochelatase activity in protoporphyria

1 reference

12 December 2020

Decreased Haem Synthetase Activity in Blood Cells of Patients with Erythropoietic Protoporphyria

1 reference

12 December 2020

Erythropoietic protoporphyria: unusual skin and neurological problems after liver transplantation

1 reference

12 December 2020

Characterization of ferrochelatase in kidney and erythroleukemia cells

1 reference

12 December 2020

Genetic heterogeneity in erythropoietic protoporphyria: a study of the enzymatic defect in nine affected families

1 reference

12 December 2020

Purification and characterization of ferro- and cobalto-chelatases

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12 December 2020

Purification and characterization of bacterial ferrochelatase

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12 December 2020

Hepatic disease in erythropoietic protoporphyria

1 reference

12 December 2020

Identifiers

PMC publication ID

1682545

0 references