(Q74603744)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12175777%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

title

Fabry disease: 45 novel mutations in the alpha-galactosidase A gene causing the classical phenotype (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12175777%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

1 reference

1 reference

4

Robert J Desnick

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12175777%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

author name string

Junaid Shabbeer

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12175777%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Makiko Yasuda

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12175777%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Edlira Luca

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12175777%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

publication date

1 May 2002

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12175777%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

12 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12175777%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

volume

76

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12175777%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12175777%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

page(s)

23-30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12175777%20AND%20SRC:MED&resulttype=core&format=json

Gene action in the X-chromosome of the mouse (Mus musculus L.)

12 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900012-4

7 January 2021

X chromosome inactivation and the diagnosis of X linked disease in females

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900012-4

7 January 2021

Fabry's disease: normal α-galactosidase activity and urinary-sediment glycosphingolipid levels in two obligate heterozygotes

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900012-4

7 January 2021

Fabry disease: comparison of enzymatic, linkage, and mutation analysis for carrier detection in a family with a novel mutation (30delG)

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900012-4

7 January 2021

Fabry disease: molecular carrier detection and prenatal diagnosis by analysis of closely linked polymorphisms at Xq22.1.

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900012-4

7 January 2021

Human alpha-galactosidase A: nucleotide sequence of a cDNA clone encoding the mature enzyme

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900012-4

7 January 2021

Nucleotide sequence of the human alpha-galactosidase A gene

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900012-4

7 January 2021

Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes.

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900012-4

7 January 2021

Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900012-4

7 January 2021

Restriction sites containing CpG show a higher frequency of polymorphism in human DNA

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900012-4

7 January 2021

The CpG dinucleotide and human genetic disease

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900012-4

7 January 2021

On the spontaneous mutability of CpG sites in cultured S49 mouse lymphoma cells

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900012-4

7 January 2021

A phase 1/2 clinical trial of enzyme replacement in fabry disease: pharmacokinetic, substrate clearance, and safety studies

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900012-4

7 January 2021

Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900012-4

7 January 2021

Enzyme replacement therapy in Fabry disease: a randomized controlled trial

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900012-4

7 January 2021

Structural organization and complete sequence of the human α-N-acetylgalactosaminidase gene: Homology with the α-galactosidase A gene provides evidence for evolution from a common ancestral gene

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900012-4

7 January 2021

A sensitive mutation screening strategy for Fabry disease: detection of nine mutations in the alpha-galactosidase A gene

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900012-4

7 January 2021

Six novel mutations in the alpha-galactosidase A gene in families with Fabry disease.

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900012-4

7 January 2021

A novel mutation (E358K) in the alpha-galactosidase A gene detected in a Japanese family with Fabry disease

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900012-4

7 January 2021

10.1016/S1096-7192(02)00012-4

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12175777%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

1 reference