(Q34425483)

2 August 2017

1 reference

title

Ichthyosis bullosa of Siemens: its correct diagnosis facilitated by molecular genetic testing (English)

1 reference

ichthyosis bullosa of Siemens

2 August 2017

main subject

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Akiyama M

1

1 reference

2 August 2017

Tsuji-Abe Y

2

1 reference

2 August 2017

Yanagihara M

3

1 reference

2 August 2017

Nakajima K

4

1 reference

2 August 2017

Kodama H

5

1 reference

2 August 2017

Yaosaka M

6

1 reference

2 August 2017

Abe M

7

1 reference

2 August 2017

Sawamura D

8

1 reference

2 August 2017

Shimizu H

9

1 reference

2 August 2017

language of work or name

English

0 references

publication date

1 June 2005

1 reference

British Journal of Dermatology

2 August 2017

published in

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2 August 2017

volume

152

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2 August 2017

issue

6

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2 August 2017

page(s)

1353-1356

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Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens

2 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2005.06598.X

Genomic organization and fine mapping of the keratin 2e gene (KRT2E): K2e V1 domain polymorphism and novel mutations in ichthyosis bullosa of Siemens

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2005.06598.X

Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2005.06598.X

A glutamate to lysine mutation at the end of 2B rod domain of keratin 2e gene in ichthyosis bullosa of Siemens

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2005.06598.X

Ichthyosis bullosa of Siemens: report of a family with evidence of a keratin 2e mutation, and a review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2005.06598.X

Disruption of the suprabasal keratin network by mutation M150T in the helix initiation motif of keratin 10 does not affect cornified cell envelope formation in human epidermis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2005.06598.X

A novel asparagine-->aspartic acid mutation in the rod 1A domain in keratin 2e in a Japanese family with ichthyosis bullosa of Siemens

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2005.06598.X

A novel mutation in the 2B domain of keratin 2e causing ichthyosis bullosa of Siemens.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2005.06598.X

New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2005.06598.X

10.1111/J.1365-2133.2005.06598.X

21 January 2018

Identifiers

DOI

1 reference

2 August 2017

1 reference