(Q72131300)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7705834%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7705834%20AND%20SRC:MED&resulttype=core&format=json

alternative mRNA splicing, via spliceosome

24 October 2019

main subject

1 reference

erythropoietic protoporphyria

inferred from title

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7705834%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

author name string

X Schneider-Yin

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7705834%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

O Tönz

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7705834%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

E I Minder

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7705834%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

publication date

1 April 1995

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7705834%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7705834%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

volume

95

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7705834%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

page(s)

391-396

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7705834%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7705834%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/bf00208962

24 October 2019

exact match

0 references

cites work

Molecular defect in human erythropoietic protoporphyria with fatal liver failure

1 reference

12 December 2020

Molecular defects in erythropoietic protoporphyria with terminal liver failure

1 reference

12 December 2020

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

1 reference

12 December 2020

The molecular defect of ferrochelatase in a patient with erythropoietic protoporphyria

1 reference

12 December 2020

Screening for ferrochelatase mutations: molecular heterogeneity of erythropoietic protoporphyria

1 reference

12 December 2020

Molecular cloning and sequence analysis of cDNA encoding human ferrochelatase

1 reference

12 December 2020

Human Erythropoietic Protoporphyria: Two point mutations in the ferrochelatase gene

1 reference

12 December 2020

Recessive inheritance of erythropoietic protoporphyria with liver failure

1 reference

12 December 2020

A molecular defect in human protoporphyria

1 reference

12 December 2020

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

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

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

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00208962

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7705834%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

1 reference