(Q50335648)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8789443%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

title

Characterization of a nonsense mutation in the ceruloplasmin gene resulting in diabetes and neurodegenerative disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8789443%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

1 reference

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8789443%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

author name string

Y Takahashi

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8789443%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

H Miyajima

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8789443%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

S Shirabe

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8789443%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

A Suenaga

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8789443%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

J D Gitlin

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8789443%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

publication date

1 January 1996

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8789443%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

published in

Human Molecular Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8789443%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

volume

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8789443%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8789443%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

page(s)

81-84

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8789443%20AND%20SRC:MED&resulttype=core&format=json

Mechanisms of caeruloplasmin biosynthesis in normal and copper-deficient rats

19 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.1.81

Deficiency of ceruloplasmin in patients with hepatolenticular degeneration (Wilson's disease).

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.1.81

Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.1.81

The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.1.81

The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.1.81

Aceruloplasminemia: molecular characterization of this disorder of iron metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.1.81

A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.1.81

Isolation and characterization of a processed gene for human ceruloplasmin

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.1.81

Structural model of human ceruloplasmin based on internal triplication, hydrophilic/hydrophobic character, and secondary structure of domains

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.1.81

Familial apoceruloplasmin deficiency associated with blepharospasm and retinal degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.1.81

Hereditary ceruloplasmin deficiency with hemosiderosis: a clinicopathological study of a Japanese family

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.1.81

The role of ceruloplasmin in iron metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.1.81

Congenital Atransferrinemia A Case Report and Review of the Literature

21 January 2018

1 reference

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Oxidative stress: free radical production in neural degeneration.

21 January 2018

1 reference

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