(Q44688689)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14669009%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

title

Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14669009%20AND%20SRC:MED&resulttype=core&format=json

erythropoietic protoporphyria

21 December 2019

main subject

1 reference

1

1 reference

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21 December 2019

Hervé Puy

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14669009%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

author name string

Anne-Marie Robreau

3

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21 December 2019

Said Lyoumi

4

1 reference

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21 December 2019

Jérome Lamoril

5

1 reference

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21 December 2019

Vasco Da Silva

6

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21 December 2019

Bernard Grandchamp

7

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21 December 2019

Jean-Charles Deybach

8

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21 December 2019

language of work or name

1 reference

11 December 2003

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21 December 2019

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21 December 2019

volume

114

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21 December 2019

issue

3

1 reference

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21 December 2019

page(s)

256-262

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https://scigraph.springernature.com/pub.10.1007/s00439-003-1059-5

21 December 2019

exact match

0 references

cites work

Systematic analysis of coproporphyrinogen oxidase gene defects in hereditary coproporphyria and mutation update

1 reference

12 December 2020

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

1 reference

12 December 2020

Molecular study of the hydroxymethylbilane synthase gene (HMBS) among Polish patients with acute intermittent porphyria

1 reference

12 December 2020

Molecular basis of acute intermittent porphyria: mutations and polymorphisms in the human hydroxymethylbilane synthase gene

1 reference

12 December 2020

Low expression allele alpha LELY of red cell spectrin is associated with mutations in exon 40 (alpha V/41 polymorphism) and intron 45 and with partial skipping of exon 46.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Molecular aspects of the inherited porphyrias

1 reference

12 December 2020

Specific polymorphisms in the RET proto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression

1 reference

12 December 2020

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

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

Nomenclature for the description of human sequence variations.

1 reference

12 December 2020

Homozygous hereditary coproporphyria caused by an arginine to tryptophane substitution in coproporphyrinogen oxidase and common intragenic polymorphisms

1 reference

12 December 2020

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

1 reference

12 December 2020

The HUGO Gene Nomenclature Committee (HGNC).

1 reference

12 December 2020

Two novel mutations and coexistence of the 991C>T and the 1339C>T mutation on a single allele in the coproporphyrinogen oxidase gene in Swedish patients with hereditary coproporphyria

1 reference

12 December 2020

Protoporphyrinogen oxidase: complete genomic sequence and polymorphisms in the human gene

1 reference

12 December 2020

Variegate porphyria in Western Europe: identification of PPOX gene mutations in 104 families, extent of allelic heterogeneity, and absence of correlation between phenotype and type of mutation

1 reference

12 December 2020

Alternative splicing and genome complexity

1 reference

12 December 2020

Single-strand conformational polymorphism and denaturing gradient gel electrophoresis in screening for variegate porphyria: identification of two new mutations

1 reference

12 December 2020

Small changes in expression affect predisposition to tumorigenesis

1 reference

12 December 2020

Sp alpha V/41: a common spectrin polymorphism at the alpha IV-alpha V domain junction. Relevance to the expression level of hereditary elliptocytosis due to alpha-spectrin variants located in trans

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1007/S00439-003-1059-5

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14669009%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

1 reference