(Q52522744)

2 May 2018

title

L273S missense substitution in human lysosomal acid lipase creates a new N-glycosylation site. (English)

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2 May 2018

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2

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2 May 2018

author name string

Pariyarath R

1

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2 May 2018

Stuani C

3

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2 May 2018

Garcia R

4

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2 May 2018

Baralle FE

5

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2 May 2018

language of work or name

English

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publication date

1 November 1996

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2 May 2018

number of pages

4

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based on heuristic

inferred from page(s)

published in

FEBS Letters

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2 May 2018

volume

397

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2 May 2018

page(s)

79-82

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2 May 2018

issue

1

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2 May 2018

Purification, characterization and molecular cloning of human hepatic lysosomal acid lipase

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2896%2901134-9

Characterization of lysosomal acid lipase by site-directed mutagenesis and heterologous expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2896%2901134-9

Glycosylation of recombinant prorenin in insect cells: the insect cell line Sf9 does not express the mannose 6-phosphate recognition signal

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2896%2901134-9

Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2896%2901134-9

A splice junction mutation causes deletion of a 72-base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storage disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2896%2901134-9

Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease

21 January 2018

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https://api.crossref.org/works/10.1016%2FS0014-5793%2896%2901134-9

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2896%2901134-9

A general method of in vitro preparation and specific mutagenesis of DNA fragments: study of protein and DNA interactions

21 January 2018

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https://api.crossref.org/works/10.1016%2FS0014-5793%2896%2901134-9

DNA sequencing with chain-terminating inhibitors

21 January 2018

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https://api.crossref.org/works/10.1016%2FS0014-5793%2896%2901134-9

Use of a hybrid vaccinia virus-T7 RNA polymerase system for expression of target genes

21 January 2018

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https://api.crossref.org/works/10.1016%2FS0014-5793%2896%2901134-9

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

21 January 2018

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https://api.crossref.org/works/10.1016%2FS0014-5793%2896%2901134-9

A histidine to tyrosine replacement in lysosomal acid lipase causes cholesteryl ester storage disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2896%2901134-9

A novel variant of lysosomal acid lipase (Leu336-->Pro) associated with acid lipase deficiency and cholesterol ester storage disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2896%2901134-9

Homozygosity for a splice junction mutation in exon 8 of the gene encoding lysosomal acid lipase in a Spanish kindred with cholesterol ester storage disease (CESD)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2896%2901134-9

10.1016/S0014-5793(96)01134-9

7 January 2021

Identifiers

DOI

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2 May 2018

PubMed ID

8941718

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2 May 2018