(Q35598442)

9 August 2017

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

1 reference

congenital erythropoietic porphyria

9 August 2017

0 references

1 reference

inferred from title

Erythropoietic porphyria

1 reference

4

R J Desnick

1 reference

9 August 2017

C A Warner

1

1 reference

9 August 2017

H W Yoo

series ordinal

2

1 reference

9 August 2017

A G Roberts

series ordinal

3

1 reference

9 August 2017

language of work or name

English

0 references

publication date

1 February 1992

1 reference

Journal of Clinical Investigation

9 August 2017

1 reference

9 August 2017

89

1 reference

9 August 2017

693-700

1 reference

9 August 2017

2

1 reference

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

9 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442904

Congenital erythropoietic porphyria

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442904

A strategy to reveal high-frequency RFLPs along the human X chromosome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442904

Purification and properties of uroporphyrinogen III synthase from human erythrocytes

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442904

Coupled-enzyme and direct assays for uroporphyrinogen III synthase activity in human erythrocytes and cultured lymphoblasts. Enzymatic diagnosis of heterozygotes and homozygotes with congenital erythropoietic porphyria

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442904

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442904

Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442904

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442904

Late onset erythropoietic porphyria

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442904

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442904

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442904

Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442904

An Atypical Variant of Fabry's Disease with Manifestations Confined to the Myocardium

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442904

Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442904

Molecular basis of base substitution hotspots in Escherichia coli

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442904

Ganglioside GM2 N-acetyl-beta-D-galactosaminidase activity in cultured fibroblasts of late-infantile and adult GM2 gangliosidosis patients and of healthy probands with low hexosaminidase level.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442904

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442904

Supercoil sequencing using unpurified templates produced by rapid boiling

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442904

Uroporphyrinogen III cosynthetase activity in fibroblasts from patients with congenital erythropoietic porphyria

26 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1737856

12 December 2020

inferred from PubMed ID database lookup

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1737856

12 December 2020

inferred from PubMed ID database lookup

Prenatal exclusion of congenital erythropoietic porphyria (Günther's disease) in a fetus at risk

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1737856

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1172/JCI115637

1 reference

9 August 2017

1 reference

9 August 2017

1 reference