(Q74127842)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452090%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

title

Novel missense mutation (M72V) of alpha-galactosidase gene and its expression product in an atypical Fabry hemizygote (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452090%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

author name string

T Okumiya

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452090%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

O Kawamura

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452090%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

K Itoh

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452090%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

R Kase

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452090%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

S Ishii

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452090%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

S Kamei

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452090%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

H Sakuraba

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452090%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

publication date

1 January 1998

1 reference

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9 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452090%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

volume

Suppl 1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452090%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

page(s)

S213-6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452090%20AND%20SRC:MED&resulttype=core&format=json

Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene

9 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110169

7 January 2021

Characterization of a mutant alpha-galactosidase gene product for the late-onset cardiac form of Fabry disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110169

7 January 2021

Human alpha-galactosidase gene expression: significance of two peptide regions encoded by exons 1-2 and 6

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110169

7 January 2021

The biogenesis of lysosomes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110169

7 January 2021

Nucleotide sequence of the human alpha-galactosidase A gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110169

7 January 2021

Generation of one set of monoclonal antibodies specific for a-pathway ganglio-series gangliosides

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110169

7 January 2021

Efficient selection for high-expression transfectants with a novel eukaryotic vector

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110169

7 January 2021

Alpha-galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteins

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110169

7 January 2021

Galactose stabilizes various missense mutants of alpha-galactosidase in Fabry disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110169

7 January 2021

An Atypical Variant of Fabry's Disease with Manifestations Confined to the Myocardium

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110169

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380110169

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452090%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

1 reference