Next-generation sequencing through multigene panel testing for the diagnosis of hereditary epidermolysis bullosa in Chinese population.

Chen, Fuying; Huang, Linting; Li, Changcan; Zhang, Jia; Yang, Weiqin; Zhang, Beibei; Li, Huaguo; Deng, Dan; Liang, Jianying; Shen, Jinwen; Yao, Zhirong; Li, Ming

Chen, Fuying; Huang, Linting; Li, Changcan; Zhang, Jia; Yang, Weiqin; Zhang, Beibei; Li, Huaguo; Deng, Dan; Liang, Jianying; Shen, Jinwen; Yao, Zhirong; Li, Ming.

Afiliación

Chen F; Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
Huang L; Institute of Dermatology, Shanghai Jiaotong University School of Medicine, Shanghai, China.
Li C; Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
Zhang J; Institute of Dermatology, Shanghai Jiaotong University School of Medicine, Shanghai, China.
Yang W; Department of General Surgery, Tongji Hospital, Tongji University School of Medicine, Shanghai, China.
Zhang B; Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
Li H; Institute of Dermatology, Shanghai Jiaotong University School of Medicine, Shanghai, China.
Deng D; Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
Liang J; Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
Shen J; Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
Yao Z; Institute of Dermatology, Shanghai Jiaotong University School of Medicine, Shanghai, China.
Li M; Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.

Clin Genet ; 98(2): 179-184, 2020 08.

Article en En | MEDLINE | ID: mdl-32484238

Asunto(s)

Colágeno Tipo VII/genética; Epidermólisis Ampollosa de la Unión/genética; Epidermólisis Ampollosa/genética; Queratina-14/genética; Queratina-5/genética; China/epidemiología; Epidermólisis Ampollosa/clasificación; Epidermólisis Ampollosa/epidemiología; Epidermólisis Ampollosa/patología; Epidermólisis Ampollosa de la Unión/clasificación; Epidermólisis Ampollosa de la Unión/epidemiología; Epidermólisis Ampollosa de la Unión/patología; Femenino; Predisposición Genética a la Enfermedad; Genética de Población; Secuenciación de Nucleótidos de Alto Rendimiento; Humanos; Masculino; Mosaicismo; Mutación/genética; Fenotipo

Palabras clave

epidermolysis bullosa; gene panel; genetic disease; pathogenic variant

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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Epidermólisis Ampollosa de la Unión / Epidermólisis Ampollosa / Colágeno Tipo VII / Queratina-14 / Queratina-5 Tipo de estudio: Diagnostic_studies Límite: Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: Clin Genet Año: 2020 Tipo del documento: Article País de afiliación: China

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