A novel splice-site mutation in the ATP2C1 gene of a Chinese family with Hailey-Hailey disease.

Xiao, Heng; Huang, Xiangjun; Xu, Hongbo; Chen, Xiang; Xiong, Wei; Yang, Zhijian; Deng, Xiong; He, Zhenghao; Deng, Hao

Xiao, Heng; Huang, Xiangjun; Xu, Hongbo; Chen, Xiang; Xiong, Wei; Yang, Zhijian; Deng, Xiong; He, Zhenghao; Deng, Hao.

Afiliação

Xiao H; Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, Hunan, China.
Huang X; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, Hunan, China.
Xu H; Department of Pathology, The Third Xiangya Hospital, Central South University, Changsha, Hunan, China.
Chen X; Department of General Surgery, The First Affiliated Hospital of Hunan University of Chinese Medicine, Changsha, Hunan, China.
Xiong W; Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, Hunan, China.
Yang Z; Department of Dermatology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Deng X; Key Laboratory of Carcinogenesis of Ministry of Health and Key Laboratory of Carcinogenesis and Cancer Invasion of Ministry of Education, Cancer Research Institute, Xiangya School of Medicine, Central South University, Changsha, Hunan, China.
He Z; Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, Hunan, China.
Deng H; Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, Hunan, China.

J Cell Biochem ; 120(3): 3630-3636, 2019 03.

Article em En | MEDLINE | ID: mdl-30654607

Assuntos

ATPases Transportadoras de Cálcio/genética; Família; Pênfigo Familiar Benigno/genética; Sítios de Splice de RNA/genética; Deleção de Sequência/genética; Adulto; Idoso de 80 Anos ou mais; Aminoácidos/genética; China; DNA Recombinante/genética; Éxons/genética; Feminino; Humanos; Íntrons/genética; Masculino; Pessoa de Meia-Idade; Linhagem; Reação em Cadeia da Polimerase Via Transcriptase Reversa

Palavras-chave

ATP2C1 gene; HaileyHailey disease (HHD); Sanger sequencing; mutation analysis; splicesite mutation

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Família / Pênfigo Familiar Benigno / Deleção de Sequência / ATPases Transportadoras de Cálcio / Sítios de Splice de RNA Idioma: En Ano de publicação: 2019 Tipo de documento: Article

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