A Novel ATP2C1 Early Truncation Mutation Suggests Haploinsufficiency as a Pathogenic Mechanism in a Patient with Hailey-Hailey Disease

Author： Shibata Akitaka Sugiura Kazumitsu Kimura Utako Takamori Kenji

Publisher： Medical Journals Limited

E-ISSN： 1651-2057|93|6|719-720

ISSN： 0001-5555

Source： Acta Dermato-Venereologica, Vol.93, Iss.6, 2013-11, pp. : 719-720

Disclaimer: Any content in publications that violate the sovereignty, the constitution or regulations of the PRC is not accepted or approved by CNPIEC.

Previous Menu Next

Related content

Diagnosis of Hailey-Hailey Disease Facilitated by DNA Testing: A Novel Mutation in ATP2C1

By Nemoto-Hasebe Ikue Akiyama Masashi Osawa Rinko Nakamura Hiroyuki Shimizu Hiroshi

Acta Dermato-Venereologica, Vol. 88, Iss. 4, 2008-06 ,pp. : 399-400

Medical Journals Limited

Access to resources Recommend Favorite

Genetic diagnosis in a Chinese Hailey–Hailey disease pedigree with novel ATP2C1 gene mutation

By Ma Yue-Mei

Archives of Dermatological Research, Vol. 300, Iss. 4, 2008-04 ,pp. : 203-207

Springer Publishing Company

Access to resources Recommend Favorite

Experience with photodynamic therapy in Hailey-Hailey disease

By Guarino Montse Fernandez Ryan Ainhoa Marquet Harto Antonio Perez-Garcia Bibiana Arrazola Jose Maria Jaen Pedro

Journal of Dermatological Treatment, Vol. 19, Iss. 5, 2008-01 ,pp. : 288-290

Informa Healthcare

Access to resources Recommend Favorite

Treatment of Hailey–Hailey disease with oral erythromycin

By Nasca M R De Pasquale R Amodeo S Fazio A Tedeschi A Micali G

Journal of Dermatological Treatment, Vol. 11, Iss. 4, 2000-12 ,pp. : 273-277

Informa Healthcare

Access to resources Recommend Favorite

Successful Treatment of Hailey-Hailey Disease with a Scanned Carbon Dioxide Laser

By Kruppa Andreas Korge Bernhard Lasch Jörg Scharffetter-Kochanek Karin Hunzelmann Nicolas

Acta Dermato-Venereologica, Vol. 80, Iss. 1, 2000-05 ,pp. : 53-54

Medical Journals Limited

Access to resources Recommend Favorite