Novel ATP2A2 mutations in a large sample of individuals with Darier disease. (Q48191014)

9 February 2018

title

Novel ATP2A2 mutations in a large sample of individuals with Darier disease. (English)

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9 February 2018

author

Detelina Grozeva

4

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Katherine Gordon-Smith

object named as

Katherine Gordon-Smith

2

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author name string

Elaine K Green

1

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Susan M Burge

3

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Colin S Munro

5

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Sherine Tavadia

6

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Lisa Jones

7

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Nicholoas Craddock

8

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publication date

28 January 2013

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The Journal of Dermatology

published in

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volume

40

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issue

4

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page(s)

259-266

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Darier-White disease: A review of the clinical features in 163 patients

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Two novel frame-shift mutations of ATP2A2 gene in Chinese patients with Darier's disease.

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Seven novel mutations in the ATP2A2 gene of Austrian patients with Darier's disease.

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Mutational analysis of the ATP2A2 gene in two Darier disease families with intrafamilial variability

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Identification of mutations in the ATP2A2 gene in patients with Darier's disease from Hungary.

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21 January 2018

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Identification of mutation c.632G>A (p.G211D) in the ATP2A2 gene and genotype-phenotype correlation in a large Chinese family with Darier’s disease

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21 January 2018

Identifiers

DOI

10.1111/1346-8138.12082

1 reference

9 February 2018

release_gewc3az3nrbijjltvhuw7rpzsm

Fatcat ID

0 references

1 reference

9 February 2018