(Q28270688)

6 July 2017

Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria (English)

1 reference

erythropoietic protoporphyria

6 July 2017

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1 reference

Rüfenacht UB

1

1 reference

6 July 2017

Gouya L

2

1 reference

6 July 2017

Schneider-Yin X

3

1 reference

6 July 2017

Puy H

4

1 reference

6 July 2017

Schäfer BW

5

1 reference

6 July 2017

Aquaron R

6

1 reference

6 July 2017

Nordmann Y

7

1 reference

6 July 2017

Minder EI

8

1 reference

6 July 2017

Deybach JC

9

1 reference

6 July 2017

language of work or name

English

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publication date

1 June 1998

1 reference

American Journal of Human Genetics

6 July 2017

1 reference

6 July 2017

62

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6 July 2017

1341-1352

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6 July 2017

6

1 reference

Erythropoietic protoporphyria

6 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377149

A novel mutation in the ferrochelatase gene associated with erythropoietic protoporphyria

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377149

A novel mutation in erythropoietic protoporphyria: an aberrant ferrochelatase mRNA caused by exon skipping during RNA splicing

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377149

Mammalian ferrochelatase. Expression and characterization of normal and two human protoporphyric ferrochelatases

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377149

Recessive inheritance of erythropoietic protoporphyria with liver failure

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377149

A molecular defect in coproporphyrinogen oxidase gene causing harderoporphyria, a variant form of hereditary coproporphyria

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377149

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

20 March 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377149

20 March 2017

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377149

Molecular cloning and sequence analysis of cDNA encoding human ferrochelatase

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377149

Human Erythropoietic Protoporphyria: Two point mutations in the ferrochelatase gene

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377149

A molecular defect in human protoporphyria

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377149

Heme synthetase deficiency in human protoporphyria. Demonstration of the defect in liver and cultured skin fibroblasts

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377149

Ferrochelatase structural mutant (Fechm1Pas) in the house mouse

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377149

Erythropoietic protoporphyria in the house mouse. A recessive inherited ferrochelatase deficiency with anemia, photosensitivity, and liver disease

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377149

Erythropoietic protoporphyria. A new porphyria syndrome with solar urticaria due to protoporphyrinaemia

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377149

Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377149

Modulation of the phenotype in dominant erythropoietic protoporphyria by a low expression of the normal ferrochelatase allele

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377149

An HPLC assay for rat liver ferrochelatase activity

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377149

Assignment of the human ferrochelatase gene (FECH) and a locus for protoporphyria to chromosome 18q22.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377149

Deletion of the ferrochelatase gene in a patient with protoporphyria

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377149

An efficient and simple method of DNA extraction from whole blood and cell lines to identify infectious agents

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377149

Site-directed mutagenesis of virtually any plasmid by eliminating a unique site

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377149

Structure of the human ferrochelatase gene. Exon/intron gene organization and location of the gene to chromosome 18.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377149

Molecular defects in erythropoietic protoporphyria with terminal liver failure

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377149

Human erythropoietic protoporphyria: identification of a mutation at the splice donor site of intron 7 causing exon 7 skipping of the ferrochelatase gene

27 November 2018

1 reference

12 December 2020

Identification of a single base pair deletion (40 del G) in exon 1 of the ferrochelatase gene in patients with erythropoietic protoporphyria

1 reference

12 December 2020

Molecular characterization of a ferrochelatase gene defect causing anomalous RNA splicing in erythropoietic protoporphyria

1 reference

12 December 2020

A novel splicing mutation in the ferrochelatase gene responsible for erythropoietic protoporphyria

1 reference

12 December 2020

Human ferrochelatase: a novel mutation in patients with erythropoietic protoporphyria and an isoform caused by alternative splicing

1 reference

12 December 2020

Systematic screening for RNA with skipped exons--splicing mutations of the ferrochelatase gene

1 reference

12 December 2020

Computational simulation of DNA melting and its application to denaturing gradient gel electrophoresis

1 reference

12 December 2020

Genetic heterogeneity in erythropoietic protoporphyria: a study of the enzymatic defect in nine affected families

1 reference

12 December 2020

Four novel mutations in the ferrochelatase gene among erythropoietic protoporphyria patients

1 reference

12 December 2020

Molecular characterization of a novel defect occurring de novo associated with erythropoietic protoporphyria

1 reference

12 December 2020

Identifiers

DOI

10.1086/301870

1 reference

6 July 2017

1 reference

6 July 2017

1 reference