(Q33247606)

24 July 2017

title

Pseudoxanthoma elasticum: evaluation of diagnostic criteria based on molecular data (English)

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24 July 2017

Christen-Zäch S

1

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24 July 2017

Huber M

2

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24 July 2017

Struk B

3

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24 July 2017

Lindpaintner K

4

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24 July 2017

Munier F

5

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24 July 2017

Panizzon RG

6

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24 July 2017

Hohl D

7

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24 July 2017

language of work or name

English

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publication date

1 July 2006

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British Journal of Dermatology

24 July 2017

published in

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24 July 2017

volume

155

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24 July 2017

issue

1

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24 July 2017

page(s)

89-93

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A novel Q378X mutation exists in the transmembrane transporter protein ABCC6 and its pseudogene: implications for mutation analysis in pseudoxanthoma elasticum.

24 July 2017

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2006.07278.X

Mutations in ABCC6 cause pseudoxanthoma elasticum

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2006.07278.X

Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2006.07278.X

Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2006.07278.X

Mapping of both autosomal recessive and dominant variants of pseudoxanthoma elasticum to chromosome 16p13.1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2006.07278.X

MRP6 (ABCC6) detection in normal human tissues and tumors.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2006.07278.X

Pseudoxanthoma elasticum and angioid streaks. A review of 106 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2006.07278.X

A 500-kb region on chromosome 16p13.1 contains the pseudoxanthoma elasticum locus: high-resolution mapping and genomic structure

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2006.07278.X

21 January 2018

Pseudoxanthoma elasticum

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2006.07278.X

The mucocutaneous marker of pseudoxanthoma elasticum

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2006.07278.X

A study of four cases of pseudoxanthoma elasticum

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2006.07278.X

10.1111/J.1365-2133.2006.07278.X

21 January 2018

Identifiers

DOI

1 reference

24 July 2017

1 reference