Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyria (Q28118865)

From Wikidata

Jump to navigation Jump to search

scientific article published on July 1, 1992

Language	Label	Description	Also known as
English	Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyria	scientific article published on July 1, 1992

Statements

scholarly article

1 reference

4 January 2017

Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyria (English)

1 reference

4 January 2017

hepatoerythropoietic porphyria

1 reference

based on heuristic

inferred from title

chromosomal deletion syndrome

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1634232

18 October 2022

1 reference

10.1007/BF00219182

https://api.crossref.org/works/10.1007/BF00219182

18 October 2022

Felix W M De Rooij

3

object named as

F. de Rooij

author given names

F

author last names

de Rooij

1 reference

4 January 2017

author name string

H. de Verneuil

1

author given names

H

author last names

de Verneuil

1 reference

4 January 2017

F. Bourgeois

2

author given names

F

author last names

Bourgeois

1 reference

4 January 2017

P. D. Siersema

4

author given names

P D

author last names

Siersema

1 reference

4 January 2017

J. H. Wilson

5

author given names

J H

author last names

Wilson

1 reference

4 January 2017

B. Grandchamp

6

author given names

B

author last names

Grandchamp

1 reference

4 January 2017

Y. Nordmann

7

author given names

Y

author last names

Nordmann

1 reference

4 January 2017

language of work or name

0 references

publication date

1 July 1992

1 reference

4 January 2017

full work available at URL

http://link.springer.com/content/pdf/10.1007/BF00219182.pdf

Portable Document Format

1 reference

10.1007/BF00219182

https://api.crossref.org/works/10.1007/BF00219182

18 October 2022

http://link.springer.com/article/10.1007/BF00219182/fulltext.html

1 reference

10.1007/BF00219182

https://api.crossref.org/works/10.1007/BF00219182

18 October 2022

http://link.springer.com/content/pdf/10.1007/BF00219182

1 reference

10.1007/BF00219182

https://api.crossref.org/works/10.1007/BF00219182

18 October 2022

1 reference

4 January 2017

89

1 reference

4 January 2017

5

1 reference

4 January 2017

548–552

1 reference

4 January 2017

Purification and characterization of bovine hepatic uroporphyrinogen decarboxylase

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634232

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Enzymatic and immunological studies of uroporphyrinogen decarboxylase in familial porphyria cutanea tarda and hepatoerythropoietic porphyria

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634232

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Uroporphyrinogen decarboxylase. Purification, properties, and inhibition by polychlorinated biphenyl isomers

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634232

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Uroporphyrinogen decarboxylase deficiency in hepatoerythropoietic porphyria: further evidence for genetic heterogeneity

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634232

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hepatoerythropoietic porphyria: a new uroporphyrinogen decarboxylase defect or homozygous porphyria cutanea tarda?

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634232

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Some kinetic properties of human red cell uroporphyrinogen decarboxylase

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634232

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial and sporadic porphyria cutanea: two different diseases

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634232

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hepatoerythropoietic porphyria: clinical, biochemical, and enzymatic studies in a three-generation family lineage

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634232

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of lysine at the active site of human 5-aminolaevulinate dehydratase

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634232

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of a new mutation responsible for hepatoerythropoietic porphyria

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634232

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Uroporphyrinogen decarboxylase structural mutant (Gly281----Glu) in a case of porphyria

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634232

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Purification and properties of uroporphyrinogen decarboxylase from human erythrocytes. A single enzyme catalyzing the four sequential decarboxylations of uroporphyrinogens I and III

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634232

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Is hepatoerythropoietic porphyria a homozygous form of porphyria cutanea tarda? Inheritance of uroporphyrinogen decarboxylase deficiency in a Spanish family

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634232

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Uroporphyrinogen decarboxylase: a splice site mutation causes the deletion of exon 6 in multiple families with porphyria cutanea tarda

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634232

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structure of the gene for human uroporphyrinogen decarboxylase

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634232

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An inherited enzymatic defect in porphyria cutanea tarda: decreased uroporphyrinogen decarboxylase activity

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634232

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/1634232

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The role of arginyl residues in porphyrin binding to ferrochelatase

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634232

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rat uroporphyrinogen decarboxylase cDNA: nucleotide sequence and comparison to human uroporphyrinogen decarboxylase

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634232

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Immunochemical study of uroporphyrinogen decarboxylase in a patient with mild hepatoerythropoietic porphyria

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634232

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A point mutation in the coding region of uroporphyrinogen decarboxylase associated with familial porphyria cutanea tarda

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634232

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular cloning and nucleotide sequence of a complete human uroporphyrinogen decarboxylase cDNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634232

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Purification and properties of uroporphyrinogen III synthase (co-synthetase) from Euglena gracilis

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634232

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nucleotide sequence of the Synechococcus sp. PCC7942 branching enzyme gene (glgB): expression in Bacillus subtilis

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634232

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evidence that pyridoxal phosphate modification of lysine residues (Lys-55 and Lys-59) causes inactivation of hydroxymethylbilane synthase (porphobilinogen deaminase).

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634232

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Purification and properties of human erythrocyte uroporphyrinogen decarboxylase: immunological demonstration of the enzyme defect in porphyria cutanea tarda

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634232

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00219182

0 references

Dimensions Publication ID

0 references

1 reference

4 January 2017

Springer Nature article ID

10.1007/bf00219182

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q28118865&oldid=2115766955"