(Q67783629)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1753437%20AND%20SRC:MED&resulttype=core&format=json

17 September 2019

title

A 3' splice site consensus sequence mutation in the intron 3 of the alpha-galactosidase A gene in a patient with Fabry disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1753437%20AND%20SRC:MED&resulttype=core&format=json

17 September 2019

A 3′ splice site consensus sequence mutation in the intron 3 of the α-galactosidase a gene in a patient with Fabry disease (English)

1 reference

16 November 2022

1 reference

Yokoi T

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1753437%20AND%20SRC:MED&resulttype=core&format=json

17 September 2019

Shinoda K

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1753437%20AND%20SRC:MED&resulttype=core&format=json

17 September 2019

Ohno I

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1753437%20AND%20SRC:MED&resulttype=core&format=json

17 September 2019

Kato K

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1753437%20AND%20SRC:MED&resulttype=core&format=json

17 September 2019

Miyawaki T

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1753437%20AND%20SRC:MED&resulttype=core&format=json

17 September 2019

Taniguchi N

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1753437%20AND%20SRC:MED&resulttype=core&format=json

17 September 2019

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1753437

16 November 2022

publication date

1 September 1991

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1753437%20AND%20SRC:MED&resulttype=core&format=json

full work available at URL

17 September 2019

http://www.nature.com/articles/jhg199124.pdf

file format

Portable Document Format

1 reference

http://www.nature.com/articles/jhg199124

16 November 2022

1 reference

http://www.springerlink.com/index/pdf/10.1007/BF01910542

16 November 2022

1 reference

Japanese Journal of Human Genetics

16 November 2022

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1753437%20AND%20SRC:MED&resulttype=core&format=json

17 September 2019

volume

36

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1753437%20AND%20SRC:MED&resulttype=core&format=json

17 September 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1753437%20AND%20SRC:MED&resulttype=core&format=json

17 September 2019

page(s)

245-250

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1753437%20AND%20SRC:MED&resulttype=core&format=json

Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene

17 September 2019

cites work

1

1 reference

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

16 November 2022

2

1 reference

Structural organization of the human alpha-galactosidase A gene: further evidence for the absence of a 3' untranslated region

16 November 2022

3

1 reference

Fabry disease: isolation of a cDNA clone encoding human alpha-galactosidase A

16 November 2022

4

1 reference

Partial deletion of human alpha-galactosidase A gene in Fabry disease: direct repeat sequences as a possible cause of slipped mispairing

16 November 2022

5

1 reference

A 3' splice site consensus sequence mutation in the cystic fibrosis gene

16 November 2022

6

1 reference

Role of interleukin 6 for differential responsiveness of naive and memory CD4+ T cells in CD2-mediated activation

16 November 2022

7

1 reference

A case of Fabry's disease in a patient with no alpha-galactosidase A activity caused by a single amino acid substitution of Pro-40 by Ser

16 November 2022

8

1 reference

Nucleotide sequence of the human alpha-galactosidase A gene

16 November 2022

9

1 reference

16 November 2022

Analytical Biochemistry

10

162

156

C. Piotr

1987

1 reference

Specific transcription and RNA splicing defects in five cloned β-thalassaemia genes

16 November 2022

13

1 reference

16 November 2022

Identifiers

DOI

10.1007/BF01910542

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1753437%20AND%20SRC:MED&resulttype=core&format=json

17 September 2019

1 reference