(Q72555210)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7860068%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

title

A missense mutation P136L in the arylsulfatase A gene causes instability and loss of activity of the mutant enzyme (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7860068%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

author name string

S Kafert

1

1 reference

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27 October 2019

U Heinisch

2

1 reference

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27 October 2019

J Zlotogora

3

1 reference

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27 October 2019

V Gieselmann

4

1 reference

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27 October 2019

publication date

1 February 1995

1 reference

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27 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7860068%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

volume

95

1 reference

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27 October 2019

issue

2

1 reference

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27 October 2019

page(s)

201-204

1 reference

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https://scigraph.springernature.com/pub.10.1007/bf00209402

27 October 2019

exact match

0 references

cites work

Inhibition of restriction endonuclease Nci I cleavage by phosphorothioate groups and its application to oligonucleotide-directed mutagenesis

1 reference

12 December 2020

The biogenesis of lysosomes

1 reference

12 December 2020

Quantitative correlation between the residual activity of beta-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease

1 reference

12 December 2020

Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area

1 reference

12 December 2020

Molecular basis of different forms of metachromatic leukodystrophy

1 reference

12 December 2020

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

1 reference

12 December 2020

Genotype-phenotype relationship in various degrees of arylsulfatase A deficiency

1 reference

12 December 2020

The incidence and genetics of metachromatic leucodystrophy in northern Sweden

1 reference

12 December 2020

Vectors for efficient expression in mammalian fibroblastoid, myeloid and lymphoid cells via transfection or infection.

1 reference

12 December 2020

Enhanced breakdown of arylsulfatase A in multiple sulfatase deficiency

1 reference

12 December 2020

Structure of the arylsulfatase A gene

1 reference

12 December 2020

Cloning and expression of human arylsulfatase A

1 reference

12 December 2020

In vitro mutagenesis of potential N-glycosylation sites of arylsulfatase A. Effects on glycosylation, phosphorylation, and intracellular sorting

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00209402

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7860068%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

1 reference