(Q34204127)

31 July 2017

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

1 reference

congenital erythropoietic porphyria

31 July 2017

0 references

1 reference

inferred from title

Erythropoietic porphyria

1 reference

3

R J Desnick

1 reference

31 July 2017

W Xu

1

1 reference

PubMed ID

7860775

31 July 2017

C A Warner

series ordinal

2

1 reference

PubMed ID

7860775

31 July 2017

language of work or name

English

0 references

publication date

1 February 1995

1 reference

Journal of Clinical Investigation

31 July 2017

1 reference

31 July 2017

95

1 reference

31 July 2017

2

1 reference

31 July 2017

905-912

1 reference

Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease

31 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295583

Congenital erythropoietic porphyria (Günther's disease): enzymatic studies on two cases of late onset.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295583

Congenital erythropoietic porphyria

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295583

The anaemia of erythropoietic prophyria with the description of the disease in an elderly patient

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295583

Uroporphyrinogen 3 cosynthetase in human congenital erythropoietic porphyria

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295583

Purification and properties of uroporphyrinogen III synthase from human erythrocytes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295583

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295583

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295583

Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295583

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295583

Late onset erythropoietic porphyria

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295583

Direct solid phase sequencing of genomic and plasmid DNA using magnetic beads as solid support.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295583

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295583

The "megaprimer" method of site-directed mutagenesis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295583

Point mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria (Günther's disease).

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295583

Splice junctions, branch point sites, and exons: sequence statistics, identification, and applications to genome project

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295583

Ehlers-Danlos syndrome type IV: phenotypic consequences of a splicing mutation in one COL3A1 allele

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295583

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295583

Molecular basis of base substitution hotspots in Escherichia coli

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295583

DNA sequencing with chain-terminating inhibitors

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295583

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295583

The erythropoietic porphyrias

28 October 2018

1 reference

12 December 2020

Sequence-Determined DNA Separations

1 reference

12 December 2020

Congenital erythropoietic porphyria. Report of a case

1 reference

12 December 2020

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

12 December 2020

A splicing mutation in the alpha 5(IV) collagen gene of a family with Alport's syndrome

1 reference

12 December 2020

Biochemical diagnosis of a fatal case of Günther's disease in a newborn with hydrops foetalis

1 reference

12 December 2020

Detecting single base substitutions as heteroduplex polymorphisms

1 reference

12 December 2020

Heterogeneity of mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria

1 reference

12 December 2020

Regional assignment of the human uroporphyrinogen III synthase (UROS) gene to chromosome 10q25.2----q26.3.

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI117742

1 reference

31 July 2017

1 reference

31 July 2017

1 reference

PubMed ID

7860775