(Q24321889)

English

Characterization of point mutations in patients with X-linked ichthyosis. Effects on the structure and function of the steroid sulfatase protein

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scholarly article

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Characterization of point mutations in patients with X-linked ichthyosis. Effects on the structure and function of the steroid sulfatase protein (English)

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protein structure

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Steroid sulfatase

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GOA release 2020-03-11

epidermis development

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GOA release 2020-03-11

author name string

E S Alperin

1

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L J Shapiro

2

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language of work or name

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publication date

15 August 1997

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Journal of Biological Chemistry

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272

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33

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20756-63

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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/10.1074%2FJBC.272.33.20756

21 January 2018

Cloning of a cDNA for steroid sulfatase: frequent occurrence of gene deletions in patients with recessive X chromosome-linked ichthyosis

1 reference

https://api.crossref.org/works/10.1074%2FJBC.272.33.20756

21 January 2018

Genetic heterogeneity of steroid sulfatase deficiency revealed with cDNA for human steroid sulfatase

1 reference

https://api.crossref.org/works/10.1074%2FJBC.272.33.20756

21 January 2018

Deletion of a DNA sequence in eight of nine families with X-linked ichthyosis (steroid sulphatase deficiency).

1 reference

https://api.crossref.org/works/10.1074%2FJBC.272.33.20756

21 January 2018

Molecular studies of deletions at the human steroid sulfatase locus

1 reference

https://api.crossref.org/works/10.1074%2FJBC.272.33.20756

21 January 2018

Characterization of the promoter region of human steroid sulfatase: a gene which escapes X inactivation

1 reference

https://api.crossref.org/works/10.1074%2FJBC.272.33.20756

21 January 2018

Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

1 reference

https://api.crossref.org/works/10.1074%2FJBC.272.33.20756

21 January 2018

[21] Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction

1 reference

https://api.crossref.org/works/10.1074%2FJBC.272.33.20756

21 January 2018

DNA sequencing with chain-terminating inhibitors

1 reference

https://api.crossref.org/works/10.1074%2FJBC.272.33.20756

21 January 2018

Characterization of a low copy repetitive element S232 involved in the generation of frequent deletions of the distal short arm of the human X chromosome

1 reference

https://api.crossref.org/works/10.1074%2FJBC.272.33.20756

21 January 2018

Frequent deletions of the human X chromosome distal short arm result from recombination between low copy repetitive elements

1 reference

https://api.crossref.org/works/10.1074%2FJBC.272.33.20756

21 January 2018

A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy

1 reference

https://api.crossref.org/works/10.1074%2FJBC.272.33.20756

21 January 2018

Cloning of the rat steroid sulfatase gene (Sts), a non-pseudoautosomal X-linked gene that undergoes X inactivation

1 reference

https://api.crossref.org/works/10.1074%2FJBC.272.33.20756

21 January 2018

Cloning and expression of the mouse pseudoautosomal steroid sulphatase gene (Sts).

1 reference

https://api.crossref.org/works/10.1074%2FJBC.272.33.20756

21 January 2018

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/10.1074%2FJBC.272.33.20756

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.272.33.20756

21 January 2018

Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis

1 reference

https://api.crossref.org/works/10.1074%2FJBC.272.33.20756

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.272.33.20756

21 January 2018

Human arylsulfatase B: MOPAC cloning, nucleotide sequence of a full-length cDNA, and regions of amino acid identity with arylsulfatases A and C.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.272.33.20756

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.272.33.20756

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.272.33.20756

21 January 2018

Steroid sulfatase expression in human placenta: immunocytochemistry and in situ hybridization study

1 reference

https://api.crossref.org/works/10.1074%2FJBC.272.33.20756

21 January 2018

Ultrastructural localization of steroid sulphatase in cultured human fibroblasts by immunocytochemistry: a comparative study with lysosomal enzymes and the mannose 6-phosphate receptor

1 reference

https://api.crossref.org/works/10.1074%2FJBC.272.33.20756

7 January 2021

based on heuristic

inferred from DOI database lookup

Human placental steroid sulphatase--purification and monospecific antibody production in rabbits

1 reference

https://api.crossref.org/works/10.1074%2FJBC.272.33.20756

7 January 2021

based on heuristic

inferred from DOI database lookup

High-expression vectors with multiple cloning sites for construction of trpE fusion genes: pATH vectors

1 reference

https://api.crossref.org/works/10.1074%2FJBC.272.33.20756

7 January 2021

based on heuristic

inferred from DOI database lookup

In vitro protein translocation across the yeast endoplasmic reticulum: ATP-dependent posttranslational translocation of the prepro-alpha-factor

1 reference

https://api.crossref.org/works/10.1074%2FJBC.272.33.20756

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular heterogeneity of steroid sulfatase deficiency: A multicenter study on 57 unrelated patients, at DNA and protein levels

1 reference

https://api.crossref.org/works/10.1074%2FJBC.272.33.20756

7 January 2021

based on heuristic

inferred from DOI database lookup

Two families of low-copy-number repeats are interspersed on Xp22.3: Implications for the high frequency of deletions in this region

1 reference

https://api.crossref.org/works/10.1074%2FJBC.272.33.20756

7 January 2021

based on heuristic

inferred from DOI database lookup

Steroid sulfatase deficiency

1 reference

https://api.crossref.org/works/10.1074%2FJBC.272.33.20756

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1074/JBC.272.33.20756

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

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