(Q36438566)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10666480%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10666480%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

1 reference

7

R J Desnick

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10666480%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

author name string

A K Topaloglu

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10666480%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

G A Ashley

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10666480%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

B Tong

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10666480%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

J Shabbeer

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10666480%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

K H Astrin

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10666480%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

C M Eng

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10666480%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

language of work or name

English

0 references

publication date

1 December 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10666480%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10666480%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

volume

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10666480%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

issue

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10666480%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

page(s)

806-811

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10666480%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/bf03401993

3 November 2019

exact match

0 references

cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230489

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230489

Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230489

The CpG dinucleotide and human genetic disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230489

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230489

Nucleotide sequence of the human alpha-galactosidase A gene

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230489

Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230489

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230489

Amplification of human polymorphic sites in the X-chromosomal region q21.33 to q24: DXS17, DXS87, DXS287, and alpha-galactosidase A

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230489

Fabry's disease: enzymatic diagnosis of hemizygotes and heterozygotes. Alpha-galactosidase activities in plasma, serum, urine, and leukocytes

30 September 2017

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10666480

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10666480

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10666480

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/BF03401993

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10666480%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10666480%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

PubMed publication ID

10666480

1 reference