Recurrent p.N767S mutation in the ATP2A2 gene in a Japanese family with haemorrhagic Darier disease clinically mimicking epidermolysis bullosa simplex with mottled pigmentation-Reference-Cited by-同舟云学术

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Recurrent p.N767S mutation in the ATP2A2 gene in a Japanese family with haemorrhagic Darier disease clinically mimicking epidermolysis bullosa simplex with mottled pigmentation

Published:2007-09 Issue:3 Volume:157 Page:605-608
ISSN:0007-0963
Container-title:British Journal of Dermatology
language:en
Short-container-title:Br J Dermatol

Author:

Hamada T.,Yasumoto S.,Karashima T.,Ishii N.,Shimada H.,Kawano Y.,Imayama S.,McGrath J.A.,Hashimoto T.

Publisher

Wiley

Subject

Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2133.2007.08086.x/fullpdf

Reference19 articles.

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

2. An immunohistological study of desmosomes in Darier's disease and Hailey-Hailey disease

3. Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease

4. Calcium pump disorders of the skin

5. Hemorrhagic Darier's Disease

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1. Inherited Acantholytic Disorders;Rook's Textbook of Dermatology;2024-02-20

2. Acral hemorrhagic Darier disease: A case report of a rare presentation and literature review;JAAD Case Reports;2023-01

3. Darier Disease: A Case Series of 20 Patients and Review of the Literature;Actas Dermo-Sifiliográficas (English Edition);2021-04

4. Enfermedad de Darier: serie de 20 casos y revisión de la literatura;Actas Dermo-Sifiliográficas;2021-03

5. Sporadic form of epidermolysis bullosa simplex with mottled pigmentation;Anais Brasileiros de Dermatologia;2020-07

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