(Q33596727)

English

Fabry disease in a large Nova Scotia kindred: carrier detection using leucocyte alpha-galactosidase activity and an NcoI polymorphism detected by an alpha-galactosidase cDNA clone

scientific article published on April 1, 1991

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Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Fabry disease in a large Nova Scotia kindred: carrier detection using leucocyte alpha-galactosidase activity and an NcoI polymorphism detected by an alpha-galactosidase cDNA clone (English)

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

1 reference

based on heuristic

inferred from title

genetic carrier screening

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1677424

26 October 2022

1 reference

10.1136/JMG.28.4.232

https://api.crossref.org/works/10.1136/JMG.28.4.232

26 October 2022

author name string

A. J. Kirkilionis

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1677424

26 October 2022

D. C. Riddell

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1677424

26 October 2022

M. W. Spence

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1677424

26 October 2022

R. G. Fenwick

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1677424

26 October 2022

language of work or name

0 references

publication date

1 April 1991

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

full work available at URL

https://europepmc.org/articles/PMC1016823

online access status

content deliverer

Europe PubMed Central

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1677424

26 October 2022

https://europepmc.org/articles/PMC1016823?pdf=render

Portable Document Format

online access status

content deliverer

Europe PubMed Central

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1677424

26 October 2022

https://syndication.highwire.org/content/doi/10.1136/jmg.28.4.232

1 reference

10.1136/JMG.28.4.232

https://api.crossref.org/works/10.1136/JMG.28.4.232

26 October 2022

Journal of Medical Genetics

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

28

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

4

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

232-240

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Strategies for multilocus linkage analysis in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016823

21 June 2018

A cDNA cloning vector that permits expression of cDNA inserts in mammalian cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016823

21 June 2018

Multilocus linkage analysis in humans: detection of linkage and estimation of recombination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016823

21 June 2018

Signal sequence and DNA-mediated expression of human lysosomal alpha-galactosidase A

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016823

21 June 2018

Synthesis and processing of alpha-galactosidase A in human fibroblasts. Evidence for different mutations in Fabry disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016823

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016823

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016823

21 June 2018

Anderson-Fabry disease--family linkage studies using two polymorphic X-linked DNA probes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016823

21 June 2018

Anderson Fabry disease, a close linkage with highly polymorphic DNA markers DXS17, DXS87 and DXS88.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016823

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016823

21 June 2018

Report of the committee on the genetic constitution of the X chromosome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016823

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016823

21 June 2018

Heterozygote detection in angiokeratoma corporis diffusum (Anderson-Fabry disease). Studies on plasma, leucocytes, and hair follicles

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016823

21 June 2018

A rapid alkaline extraction procedure for screening recombinant plasmid DNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016823

21 June 2018

Angiokeratoma corporis diffusum (Anderson-Fabry disease) in a single large family in Nova Scotia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016823

21 June 2018

Fabry's disease: biochemical and histochemical studies on hair roots for carrier detection

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016823

21 June 2018

Genetic Inactivation of the α-Galactosidase Locus in Carriers of Fabry's Disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/1677424

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fabry disease: molecular diagnosis of hemizygotes and heterozygotes

1 reference

https://pubmed.ncbi.nlm.nih.gov/1677424

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Age related reactivation of an X-linked gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/1677424

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of Fabry's disease heterozygotes by enzyme analysis in single fibroblasts after cell sorting

1 reference

https://pubmed.ncbi.nlm.nih.gov/1677424

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Regional localization of α-galactosidase ( GLA ) to Xpter→q22, hexosaminidase B ( HEXB ) to 5q13→qter, and arylsulfatase B ( ARSB ) to5pter→q13

1 reference

https://pubmed.ncbi.nlm.nih.gov/1677424

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Failure to correct the metabolic defect by renal allotransplantion in Fabry's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/1677424

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.28.4.232

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

ResearchGate publication ID

0 references

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