(Q73893357)

English

Two new polymorphisms in the arylsulfatase A gene and their haplotype associations with normal, metachromatic leukodystrophy and pseudodeficiency alleles

scientific article published on 01 November 1997

In more languages

default for all languages

No label defined

No description defined

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9375919%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

Two new polymorphisms in the arylsulfatase A gene and their haplotype associations with normal, metachromatic leukodystrophy and pseudodeficiency alleles (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9375919%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

metachromatic leukodystrophy

1 reference

based on heuristic

inferred from title

Marion Coulter-Mackie

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9375919%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

author name string

L Gagnier

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9375919%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

publication date

1 November 1997

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9375919%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

American Journal of Medical Genetics Part A

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9375919%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

73

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9375919%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9375919%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

32-35

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9375919%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

Diagnostic single strand conformational polymorphism, (SSCP): a simplified non-radioisotopic method as applied to a Tay-Sachs B1 variant

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819971128%2973%3A1%3C32%3A%3AAID-AJMG7%3E3.0.CO%3B2-R

21 January 2018

Frequency of arylsulphatase A pseudodeficiency associated mutations in a healthy population

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819971128%2973%3A1%3C32%3A%3AAID-AJMG7%3E3.0.CO%3B2-R

21 January 2018

A new polymorphism of arylsulfatase A within the coding region

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819971128%2973%3A1%3C32%3A%3AAID-AJMG7%3E3.0.CO%3B2-R

21 January 2018

Metachromatic leucodystrophy (MLD) in a patient with a constitutional ring chromosome 22.

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819971128%2973%3A1%3C32%3A%3AAID-AJMG7%3E3.0.CO%3B2-R

21 January 2018

Metachromatic leucodystrophy in three families from Nova Scotia, Canada: a recurring mutation in the arylsulphatase A gene

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819971128%2973%3A1%3C32%3A%3AAID-AJMG7%3E3.0.CO%3B2-R

21 January 2018

Molecular characteristics in Japanese patients with lipidosis: novel mutations in metachromatic leukodystrophy and Gaucher disease

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819971128%2973%3A1%3C32%3A%3AAID-AJMG7%3E3.0.CO%3B2-R

21 January 2018

Arylsulfatase A pseudodeficiency: loss of a polyadenylylation signal and N-glycosylation site

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819971128%2973%3A1%3C32%3A%3AAID-AJMG7%3E3.0.CO%3B2-R

21 January 2018

Molecular genetics of metachromatic leukodystrophy

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819971128%2973%3A1%3C32%3A%3AAID-AJMG7%3E3.0.CO%3B2-R

21 January 2018

How sensitive is PCR-SSCP?

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819971128%2973%3A1%3C32%3A%3AAID-AJMG7%3E3.0.CO%3B2-R

21 January 2018

A D255H substitution in the arylsulphatase A gene of two unrelated Belgian patients with late-infantile metachromatic leukodystrophy

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819971128%2973%3A1%3C32%3A%3AAID-AJMG7%3E3.0.CO%3B2-R

21 January 2018

Population frequency of the arylsulphatase A pseudo-deficiency allele

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819971128%2973%3A1%3C32%3A%3AAID-AJMG7%3E3.0.CO%3B2-R

21 January 2018

Association of alcoholism with the N-glycosylation polymorphism of pseudodeficient human arylsulfatase A.

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819971128%2973%3A1%3C32%3A%3AAID-AJMG7%3E3.0.CO%3B2-R

21 January 2018

Molecular basis of different forms of metachromatic leukodystrophy

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819971128%2973%3A1%3C32%3A%3AAID-AJMG7%3E3.0.CO%3B2-R

21 January 2018

Arylsulfatase A pseudodeficiency-associated mutations: Population studies and identification of a novel haplotype

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819971128%2973%3A1%3C32%3A%3AAID-AJMG7%3E3.0.CO%3B2-R

21 January 2018

Arylsulfatase A pseudodeficiency: a common polymorphism which is associated with a unique haplotype

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819971128%2973%3A1%3C32%3A%3AAID-AJMG7%3E3.0.CO%3B2-R

21 January 2018

A single origin for the most frequent mutation causing late infantile metachromatic leucodystrophy

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819971128%2973%3A1%3C32%3A%3AAID-AJMG7%3E3.0.CO%3B2-R

21 January 2018

Identifiers

10.1002/(SICI)1096-8628(19971128)73:1<32::AID-AJMG7>3.0.CO;2-R

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9375919%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9375919%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q73893357&oldid=2245549243"