Az elso, genetikai vizsgálattal is alátámasztott chronicus benignus pemphigus (Hailey-Hailey-betegség) esete Magyarországon

Réka Szigeti, Sheau Chiou Chao, Dalma Várszegi, Márta Czakó, György Kosztolányi, Richárd Kellermayer

研究成果: Short survey同行評審

1 引文 斯高帕斯(Scopus)

摘要

Hailey-Hailey disease, or chronic benign pemphigus (MIM# 169600), is a genodermatosis arising in adult age with recurrent vesicles and erosions primarily in the flexural areas. It is an autosomal dominant skin disorder characterized by abnormal keratinocyte adhesion in the suprabasal layers of the epidermis. ATP2C1, encoding the human secretory pathway Ca(2+)-ATPase (hSPCA1), was recently identified as the defective gene in Hailey-Hailey disease. More than 82 different ATP2C1 mutations have been described up to date. In this study, a case of Hailey-Hailey disease is presented where a nucleotide change (1402C > T) in the decoding region of ATP2C1 resulted in a premature stop mutation (R468X). This defect has been reported earlier in a patient of European descent. A brief molecular genetic review of the disorder is also given.

貢獻的翻譯標題The first genetically supported case of chronic benign pemphigus (Hailey-Hailey disease) in Hungary
原文Hungarian
頁(從 - 到)1933-1935
頁數3
期刊Orvosi Hetilap
146
發行號37
出版狀態Published - 2005 十二月 1

All Science Journal Classification (ASJC) codes

  • Medicine(all)

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