(Q24676183)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8644733%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

title

Uroporphyrinogen decarboxylase: complete human gene sequence and molecular study of three families with hepatoerythropoietic porphyria (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8644733%20AND%20SRC:MED&resulttype=core&format=json

hepatoerythropoietic porphyria

16 October 2019

main subject

1 reference

3

1 reference

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16 October 2019

author name string

Moran-Jimenez MJ

1

1 reference

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16 October 2019

Ged C

2

1 reference

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16 October 2019

Enriquez De Salamanca R

4

1 reference

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16 October 2019

Taïeb A

5

1 reference

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16 October 2019

Topi G

6

1 reference

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16 October 2019

D'Alessandro L

7

1 reference

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16 October 2019

de Verneuil H

8

1 reference

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16 October 2019

language of work or name

English

0 references

publication date

1 April 1996

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8644733%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

16 October 2019

published in

1 reference

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16 October 2019

volume

58

1 reference

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16 October 2019

issue

4

1 reference

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16 October 2019

page(s)

712-721

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8644733%20AND%20SRC:MED&resulttype=core&format=json

Structure of the gene for human uroporphyrinogen decarboxylase

16 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914669

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914669

Identification of amino acid changes affecting yeast uroporphyrinogen decarboxylase activity by sequence analysis of hem12 mutant alleles

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914669

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914669

Molecular defects of uroporphyrinogen decarboxylase in a patient with mild hepatoerythropoietic porphyria

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914669

A mutation (G281E) of the human uroporphyrinogen decarboxylase gene causes both hepatoerythropoietic porphyria and overt familial porphyria cutanea tarda: biochemical and genetic studies on Spanish patients

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914669

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914669

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914669

Identification of a new mutation responsible for hepatoerythropoietic porphyria

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914669

Porphyrias: animal models and prospects for cellular and gene therapy.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914669

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914669

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914669

Cloning and sequencing of the hemE gene encoding uroporphyrinogen III decarboxylase (UPD) from Escherichia coli K-12.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914669

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914669

Uroporphyrinogen decarboxylase in Saccharomyces cerevisiae. HEM12 gene sequence and evidence for two conserved glycines essential for enzymatic activity

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914669

Analysis of uroporphyrinogen decarboxylase complementary DNAs in sporadic porphyria cutanea tarda

30 May 2018

1 reference

12 December 2020

Two cases in infantile and familial porphyria cutanea tarda

1 reference

12 December 2020

delta-Aminolevulinate dehydratase in human erythroleukemia cells: an immunologically distinct enzyme

1 reference

12 December 2020

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

1 reference

12 December 2020

Prevalence of the 281 (Gly----Glu) mutation in hepatoerythropoietic porphyria and porphyria cutanea tarda

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8644733%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

PubMed publication ID

8644733

1 reference