A novel mutation in the ARS (component B) gene encoding SLURP-1 in a family with Mal de Meleda (Q73888408)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12950349%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

title

A novel mutation in the ARS (component B) gene encoding SLURP-1 in a family with Mal de Meleda (English)

1 reference

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7 November 2019

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3

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7 November 2019

author name string

O Yerebakan

series ordinal

1

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7 November 2019

G Hu

series ordinal

2

1 reference

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7 November 2019

J T Celebi

series ordinal

4

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7 November 2019

publication date

1 September 2003

1 reference

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Clinical and Experimental Dermatology

7 November 2019

published in

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7 November 2019

volume

28

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7 November 2019

issue

5

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7 November 2019

page(s)

542-544

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Mal de Meleda: a review of Turkish reports

7 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.2003.01342.X

Genetic linkage of Meleda disease to chromosome 8qter

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.2003.01342.X

Mutations in the gene encoding SLURP-1 in Mal de Meleda

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.2003.01342.X

Identification of recurrent mutations in the ARS (component B) gene encoding SLURP-1 in two families with mal de Meleda

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.2003.01342.X

Structural and phylogenetic characterization of human SLURP-1, the first secreted mammalian member of the Ly-6/uPAR protein superfamily

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.2003.01342.X

Mal de Meleda (MDM) caused by mutations in the gene for SLURP-1 in patients from Germany, Turkey, Palestine, and the United Arab Emirates

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.2003.01342.X

Novel mutations in the gene encoding secreted lymphocyte antigen-6/urokinase-type plasminogen activator receptor-related protein-1 (SLURP-1) and description of five ancestral haplotypes in patients with Mal de Meleda.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.2003.01342.X

Genetic and Clinical Heterogeneity in Transgressive Palmoplantar Keratoderma

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.2003.01342.X

10.1046/J.1365-2230.2003.01342.X

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12950349%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

1 reference