(Q77848302)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10360396%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10360396%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

1 reference

3

R Giugliani

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10360396%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

5

R J Desnick

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10360396%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

author name string

P Ashton-Prolla

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10360396%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

G A Ashley

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10360396%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

R F Pires

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10360396%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

C M Eng

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10360396%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

publication date

1 June 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10360396%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics Part A

8 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10360396%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

volume

84

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10360396%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10360396%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

page(s)

420-424

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10360396%20AND%20SRC:MED&resulttype=core&format=json

Dinucleotide repeat polymorphism at the DXS178 locus

8 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990611%2984%3A5%3C420%3A%3AAID-AJMG6%3E3.0.CO%3B2-Z

Trinucleotide repeat polymorphism at DXS101

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990611%2984%3A5%3C420%3A%3AAID-AJMG6%3E3.0.CO%3B2-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990611%2984%3A5%3C420%3A%3AAID-AJMG6%3E3.0.CO%3B2-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990611%2984%3A5%3C420%3A%3AAID-AJMG6%3E3.0.CO%3B2-Z

Three dinucleotide repeat polymorphisms at the DXS178 locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990611%2984%3A5%3C420%3A%3AAID-AJMG6%3E3.0.CO%3B2-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990611%2984%3A5%3C420%3A%3AAID-AJMG6%3E3.0.CO%3B2-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990611%2984%3A5%3C420%3A%3AAID-AJMG6%3E3.0.CO%3B2-Z

Genetic mapping of four dinucleotide repeat loci, DXS453, DXS458, DXS454, and DXS424, on the X chromosome using multiplex polymerase chain reaction

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990611%2984%3A5%3C420%3A%3AAID-AJMG6%3E3.0.CO%3B2-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990611%2984%3A5%3C420%3A%3AAID-AJMG6%3E3.0.CO%3B2-Z

Nucleotide sequence of the human alpha-galactosidase A gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990611%2984%3A5%3C420%3A%3AAID-AJMG6%3E3.0.CO%3B2-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990611%2984%3A5%3C420%3A%3AAID-AJMG6%3E3.0.CO%3B2-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990611%2984%3A5%3C420%3A%3AAID-AJMG6%3E3.0.CO%3B2-Z

A simple salting out procedure for extracting DNA from human nucleated cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990611%2984%3A5%3C420%3A%3AAID-AJMG6%3E3.0.CO%3B2-Z

A 6.5-Mb yeast artificial chromosome contig incorporating 33 DNA markers on the human X chromosome at Xq22.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990611%2984%3A5%3C420%3A%3AAID-AJMG6%3E3.0.CO%3B2-Z

Construction of a 5.2-megabase physical map of the human X chromosome at Xq22 using pulsed-field gel electrophoresis and yeast artificial chromosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990611%2984%3A5%3C420%3A%3AAID-AJMG6%3E3.0.CO%3B2-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990611%2984%3A5%3C420%3A%3AAID-AJMG6%3E3.0.CO%3B2-Z

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990611%2984%3A5%3C420%3A%3AAID-AJMG6%3E3.0.CO%3B2-Z

Dinucleotide repeat polymorphisms at the DXS453, DXS454 and DXS458 loci

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990611%2984%3A5%3C420%3A%3AAID-AJMG6%3E3.0.CO%3B2-Z

10.1002/(SICI)1096-8628(19990611)84:5<420::AID-AJMG6>3.0.CO;2-Z

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10360396%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

1 reference