(Q83632705)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21412250%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

title

Fabry-database.org: database of the clinical phenotypes, genotypes and mutant α-galactosidase A structures in Fabry disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21412250%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

1 reference

Seiji Saito

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21412250%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

Kazuki Ohno

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21412250%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

Hitoshi Sakuraba

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21412250%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

publication date

17 March 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21412250%20AND%20SRC:MED&resulttype=core&format=json

Journal of Human Genetics

25 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21412250%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

volume

56

1 reference

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25 January 2020

issue

6

1 reference

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25 January 2020

page(s)

467-468

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21412250%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/jhg.2011.31

25 January 2020

exact match

0 references

cites work

High incidence of later-onset fabry disease revealed by newborn screening

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.31

7 January 2021

Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A).

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.31

7 January 2021

Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.31

7 January 2021

Structural characterization of mutant alpha-galactosidases causing Fabry disease

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.31

7 January 2021

Fabry disease: correlation between structural changes in alpha-galactosidase, and clinical and biochemical phenotypes

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.31

7 January 2021

Identifiers

DOI

10.1038/JHG.2011.31

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21412250%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

1 reference