Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria (Q34563770)

3 August 2017

Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria (English)

1 reference

single-nucleotide polymorphism

3 August 2017

1 reference

4

Frederic Austerlitz

1 reference

3 August 2017

Laurent Gouya

1

0 references

Hervé Puy

object named as

Herve Puy

11

0 references

author name string

Caroline Martin-Schmitt

2

1 reference

3 August 2017

Anne-Marie Robreau

3

1 reference

3 August 2017

Vasco Da Silva

5

1 reference

3 August 2017

Patrick Brun

6

1 reference

3 August 2017

Sylvie Simonin

7

1 reference

3 August 2017

Said Lyoumi

8

1 reference

3 August 2017

Bernard Grandchamp

9

1 reference

3 August 2017

Carole Beaumont

10

1 reference

3 August 2017

Jean-Charles Deybach

12

1 reference

3 August 2017

language of work or name

English

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publication date

15 November 2005

1 reference

American Journal of Human Genetics

3 August 2017

1 reference

3 August 2017

78

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3 August 2017

1

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3 August 2017

2-14

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Production and characterization of erythropoietic protoporphyric heterodimeric ferrochelatases

3 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380220

A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380220

Autosomal recessive erythropoietic protoporphyria in the United Kingdom: prevalence and relationship to liver disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380220

Porphyrias in Japan: compilation of all cases reported through 2002.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380220

Detecting population growth, selection and inherited fertility from haplotypic data in humans

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380220

Haplotypes in the dystrophin DNA segment point to a mosaic origin of modern human diversity

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380220

Molecular basis of red cell membrane disorders

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380220

An exon 10 deletion in the mouse ferrochelatase gene has a dominant-negative effect and causes mild protoporphyria

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380220

The HUGO Gene Nomenclature Committee (HGNC).

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380220

ACP Best Practice No 165: front line tests for the investigation of suspected porphyria

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380220

Erythropoietic protoporphyria. An overview with emphasis on the liver.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380220

New insights into the pathogenesis of erythropoietic protoporphyria and their impact on patient care

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380220

Deep common ancestry of indian and western-Eurasian mitochondrial DNA lineages

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380220

Inheritance in erythropoietic protoporphyria: a common wild-type ferrochelatase allelic variant with low expression accounts for clinical manifestation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380220

Towards a theory of modern human origins: geography, demography, and diversity in recent human evolution

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380220

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380220

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380220

Erythropoietic protoporphyria.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380220

Genetic aspects of erythropoietic protoporphyria

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380220

An HPLC assay for rat liver ferrochelatase activity

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380220

The liver in protoporphyria

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380220

Ferrochelatase activity in human lymphocytes, as quantified by a new high-performance liquid-chromatographic method.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380220

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380220

Human Erythropoietic Protoporphyria: Two point mutations in the ferrochelatase gene

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380220

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380220

Ferrochelatase consisting of wild-type and mutated subunits from patients with a dominant-inherited disease, erythropoietic protoporphyria, is an active but unstable dimer.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380220

Hypermethylation of the wild-type ferrochelatase allele is closely associated with severe liver complication in a family with erythropoietic protoporphyria.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380220

Genotypic determinants of phenotype in North American patients with erythropoietic protoporphyria

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380220

Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyria

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380220

Zebrafish dracula encodes ferrochelatase and its mutation provides a model for erythropoietic protoporphyria.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380220

The genetic clock and the age of the founder effect in growing populations: a lesson from French Canadians and Ashkenazim

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1380220

Bovine protoporphyria: the first nonhuman model of this hereditary photosensitizing disease

27 October 2018

1 reference

12 December 2020

Hepatobiliary implications and complications in protoporphyria, a 20-year study

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

Recessive inheritance of erythropoietic protoporphyria with liver failure

1 reference

12 December 2020

Ferrochelatase activities in patients with erythropoietic protoporphyria and their families

1 reference

12 December 2020

A novel A(-4)-to-G acceptor splice site mutation leads to three bases insertion in ferrochelatase mRNA in a patient with erythropoietic protoporphyria

1 reference

12 December 2020

The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH

1 reference

12 December 2020

Late-onset erythropoietic porphyria caused by a chromosome 18q deletion in erythroid cells

1 reference

12 December 2020

Ferrochelatase gene mutations in erythropoietic protoporphyria: focus on liver disease

1 reference

12 December 2020

A new ferrochelatase mutation combined with low expression alleles in a Japanese patient with erythropoietic protoporphyria

1 reference

12 December 2020

Erythropoietic protoporphyria: altered phenotype after bone marrow transplantation for myelogenous leukemia in a patient heteroallelic for ferrochelatase gene mutations

1 reference

12 December 2020

A “null allele” mutation is responsible for erythropoietic protoporphyria in an Israeli patient who underwent liver transplantation: relationships among biochemical, clinical, and genetic parameters

1 reference

12 December 2020

Identifiers

DOI

10.1086/498620

1 reference

3 August 2017

1 reference

3 August 2017

1 reference