(Q54665373)

2 June 2018

title

An arylsulfatase A (ARSA) missense mutation (T274M) causing late-infantile metachromatic leukodystrophy. (English)

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2 June 2018

author

Charles Phillip Morris

5

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2 June 2018

author name string

Harvey JS

1

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2 June 2018

Nelson PV

2

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2 June 2018

Carey WF

3

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2 June 2018

Robertson EF

4

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2 June 2018

publication date

1 January 1993

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2 June 2018

published in

Human Mutation

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2 June 2018

volume

2

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2 June 2018

page(s)

261-267

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2 June 2018

issue

4

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2 June 2018

A cDNA clone for human glucosamine-6-sulphatase reveals differences between arylsulphatases and non-arylsulphatases

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The assay of arylsulphatases A and B in human urine

21 January 2018

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7 January 2021

An 11-bp deletion in the arylsulfatase A gene of a patient with late infantile metachromatic leukodystrophy

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https://api.crossref.org/works/10.1002%2FHUMU.1380020405

7 January 2021

Structure and expression of the gene encoding the periplasmic arylsulfatase of Chlamydomonas reinhardtii

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https://api.crossref.org/works/10.1002%2FHUMU.1380020405

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.1380020405

7 January 2021

Genotype-phenotype relationship in various degrees of arylsulfatase A deficiency

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https://api.crossref.org/works/10.1002%2FHUMU.1380020405

7 January 2021

Late-onset metachromatic leukodystrophy: molecular pathology in two siblings

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020405

7 January 2021

Structure of the arylsulfatase A gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020405

7 January 2021

Improved double-stranded DNA sequencing using the linear polymerase chain reaction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020405

7 January 2021

Population frequency of the arylsulphatase A pseudo-deficiency allele

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020405

7 January 2021

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020405

7 January 2021

Molecular basis of different forms of metachromatic leukodystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020405

7 January 2021

The effect of the interdependence of protein and bile salt concentrations on the measurement of cerebroside sulphate sulphatase activity in human leucocyte and fibroblast extracts

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020405

7 January 2021

Human glucosamine-6-sulfatase cDNA reveals homology with steroid sulfatase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020405

7 January 2021

cDNA cloning, nucleotide sequence and expression of the gene for arylsulfatase in the sea urchin (Hemicentrotus pulcherrimus) embryo.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020405

7 January 2021

alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020405

7 January 2021

A freeze-squeeze method for recovering long DNA from agarose gels

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020405

7 January 2021

Morquio disease: isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020405

7 January 2021

Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020405

7 January 2021

Structure and tissue-specific developmental expression of a sea urchin arylsulfatase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020405

7 January 2021

Cloning and expression of steroid sulfatase cDNA and the frequent occurrence of deletions in STS deficiency: implications for X-Y interchange

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020405

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380020405

1 reference

2 June 2018

PubMed ID

8104633

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2 June 2018