(Q82742621)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21132468%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

title

The low expression allele (IVS3-48C) of the ferrochelatase gene leads to low enzyme activity associated with erythropoietic protoporphyria (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21132468%20AND%20SRC:MED&resulttype=core&format=json

erythropoietic protoporphyria

17 January 2020

main subject

1 reference

Tsuyoshi Tahara

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21132468%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Masayoshi Yamamoto

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21132468%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Reiko Akagi

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21132468%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Hideo Harigae

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21132468%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Shigeru Taketani

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21132468%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

publication date

4 December 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21132468%20AND%20SRC:MED&resulttype=core&format=json

International Journal of Hematology

17 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21132468%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

volume

92

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21132468%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21132468%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

page(s)

769-771

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21132468%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s12185-010-0725-3

17 January 2020

exact match

0 references

cites work

Novel ferrochelatase mutations in Japanese patients with erythropoietic protoporphyria: high frequency of the splice site modulator IVS3-48C polymorphism in the Japanese population

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

The ferrochelatase gene structure and molecular defects associated with erythropoietic protoporphyria

1 reference

12 December 2020

The molecular genetics of erythropoietic protoporphyria.

1 reference

12 December 2020

Recessive inheritance of erythropoietic protoporphyria with liver failure

1 reference

12 December 2020

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

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

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

1 reference

12 December 2020

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

1 reference

12 December 2020