(Q24539508)

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Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles

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scholarly article

1 reference

Europe PubMed Central

6 July 2017

Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles (English)

1 reference

Europe PubMed Central

6 July 2017

porphyria cutanea tarda

1 reference

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author name string

M Mendez

1

1 reference

Europe PubMed Central

6 July 2017

L Sorkin

2

1 reference

Europe PubMed Central

6 July 2017

M V Rossetti

3

1 reference

Europe PubMed Central

6 July 2017

K H Astrin

4

1 reference

Europe PubMed Central

6 July 2017

A M del C Batlle

5

1 reference

Europe PubMed Central

6 July 2017

V E Parera

6

1 reference

Europe PubMed Central

6 July 2017

G Aizencang

7

1 reference

Europe PubMed Central

6 July 2017

R J Desnick

8

1 reference

Europe PubMed Central

6 July 2017

language of work or name

0 references

publication date

1 November 1998

1 reference

Europe PubMed Central

6 July 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

6 July 2017

63

1 reference

Europe PubMed Central

6 July 2017

1363-1375

1 reference

Europe PubMed Central

6 July 2017

5

1 reference

Europe PubMed Central

6 July 2017

Crystal structure of human uroporphyrinogen decarboxylase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377546

24 March 2017

A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377546

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377546

24 March 2017

Structure of the gene for human uroporphyrinogen decarboxylase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377546

24 March 2017

Human uroporphyrinogen III synthase: molecular cloning, nucleotide sequence, and expression of a full-length cDNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377546

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377546

24 March 2017

Alpha-galactosidase A gene rearrangements causing Fabry disease. Identification of short direct repeats at breakpoints in an Alu-rich gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377546

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377546

24 March 2017

A comprehensive genetic map of the human genome based on 5,264 microsatellites

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377546

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377546

24 March 2017

Five new mutations in the uroporphyrinogen decarboxylase gene identified in families with cutaneous porphyria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377546

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377546

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377546

24 March 2017

Linkage of pycnodysostosis to chromosome 1q21 by homozygosity mapping

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377546

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377546

24 March 2017

Assignment of human uroporphyrinogen decarboxylase (URO-D) to the p34 band of chromosome 1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377546

24 March 2017

The CpG dinucleotide and human genetic disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377546

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377546

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377546

24 March 2017

Identification of a new mutation responsible for hepatoerythropoietic porphyria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377546

24 March 2017

Decreased activity of hepatic uroporphyrinogen decarboxylase in sporadic porphyria cutanea tarda

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377546

24 March 2017

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377546

24 March 2017

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377546

7 April 2017

Duarte allele impairs biostability of galactose-1-phosphate uridyltransferase in human lymphoblasts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377546

27 September 2017

Human delta-aminolevulinate dehydratase (ALAD) gene: structure and alternative splicing of the erythroid and housekeeping mRNAs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377546

27 September 2017

Congenital erythropoietic porphyria: identification and expression of 10 mutations in the uroporphyrinogen III synthase gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377546

27 September 2017

Molecular analysis of uroporphyrinogen decarboxylase deficiency in a family with two cases of hepatoerythropoietic porphyria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377546

27 September 2017

Congenital erythropoietic porphyria: identification and expression of exonic mutations in the uroporphyrinogen III synthase gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377546

27 September 2017

Hepatic siderosis and porphyria cutanea tarda: relation of iron excess to the metabolic defect

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377546

27 September 2017

Macrocyclic intermediates in the biosynthesis of porphyrins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377546

27 September 2017

Separation of porphyrin isomers by high-performance liquid chromatography

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377546

30 May 2018

Tissue-specific expression of porphobilinogen deaminase. Two isoenzymes from a single gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377546

30 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377546

30 May 2018

Hepatitis C virus and porphyria cutanea tarda: evidence of a strong association

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377546

30 May 2018

Familial and sporadic porphyria cutanea: two different diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377546

30 May 2018

Porphyria cutanea tarda. Clinical features and laboratory findings in 40 patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377546

30 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377546

29 November 2018

Hepatitis C virus antibodies and liver disease in patients with porphyria cutanea tarda

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377546

29 November 2018

Use of cyclosporin A in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377546

29 November 2018

Analysis of uroporphyrinogen decarboxylase complementary DNAs in sporadic porphyria cutanea tarda

1 reference

https://pubmed.ncbi.nlm.nih.gov/9792863

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Complex pattern of alternative splicing in the normal uroporphyrinogen decarboxylase gene: implications for diagnosis of familial porphyria cutanea tarda

1 reference

https://pubmed.ncbi.nlm.nih.gov/9792863

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Acute intermittent porphyria: identification and expression of exonic mutations in the hydroxymethylbilane synthase gene. An initiation codon missense mutation in the housekeeping transcript causes "variant acute intermittent porphyria" with normal

1 reference

https://pubmed.ncbi.nlm.nih.gov/9792863

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic hemochromatosis in Italian patients with prophyria cutanea tarda: possible explanation for iron overload

1 reference

https://pubmed.ncbi.nlm.nih.gov/9792863

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda

1 reference

https://pubmed.ncbi.nlm.nih.gov/9792863

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations of the hereditary hemochromatosis candidate gene HLA-H in porphyria cutanea tarda

1 reference

https://pubmed.ncbi.nlm.nih.gov/9792863

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

High prevalence of the His63Asp HFE mutation in italian patients with porphyria cutanea tarda

1 reference

https://pubmed.ncbi.nlm.nih.gov/9792863

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Porphyria cutanea tarda

1 reference

https://pubmed.ncbi.nlm.nih.gov/9792863

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Iron storage in porphyria cutanea tarda

1 reference

https://pubmed.ncbi.nlm.nih.gov/9792863

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/9792863

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Assignment of the gene for uroporphyrinogen decarboxylase to human chromosome 1 by somatic cell hybridization and specific enzyme immunoassay

1 reference

https://pubmed.ncbi.nlm.nih.gov/9792863

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9792863

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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Europe PubMed Central

6 July 2017

1 reference

Europe PubMed Central

6 July 2017

1 reference

Europe PubMed Central

6 July 2017

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