Novel biallelic variants in COL7A1 cause recessive dystrophic epidermolysis bullosa.

Yang, Neng; Ma, Yongyi; Yao, Hong; Chang, Qing; Zhang, Victor; Liang, Zhiqing; Cai, Xiongwei

Yang, Neng; Ma, Yongyi; Yao, Hong; Chang, Qing; Zhang, Victor; Liang, Zhiqing; Cai, Xiongwei.

Afiliação

Yang N; Key Laboratory of Freshwater Fish Reproduction and Development, Ministry of Education, Laboratory of Molecular Developmental Biology, School of Life Sciences, Southwest University, Chongqing, China.
Ma Y; Department of Gynecology & Obstetrics, Southwest Hospital, Third Military Medical University (Army Medical University), Chongqing, China.
Yao H; Department of Gynecology & Obstetrics, Southwest Hospital, Third Military Medical University (Army Medical University), Chongqing, China.
Chang Q; Department of Gynecology & Obstetrics, Southwest Hospital, Third Military Medical University (Army Medical University), Chongqing, China.
Zhang V; Department of Gynecology & Obstetrics, Southwest Hospital, Third Military Medical University (Army Medical University), Chongqing, China.
Liang Z; Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, TX, USA.
Cai X; AmCare Genomics Lab, Guangzhou, China.

Mol Genet Genomic Med ; 8(8): e1347, 2020 08.

Article em En | MEDLINE | ID: mdl-32537942

Assuntos

Colágeno Tipo VII/genética; Epidermólise Bolhosa Distrófica/genética; Alelos; Pré-Escolar; Colágeno Tipo VII/metabolismo; Epidermólise Bolhosa Distrófica/patologia; Feminino; Células HeLa; Humanos; Mutação; Fenótipo; Sítios de Splice de RNA

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Epidermólise Bolhosa Distrófica / Colágeno Tipo VII Tipo de estudo: Prognostic_studies Limite: Child, preschool / Female / Humans Idioma: En Revista: Mol Genet Genomic Med Ano de publicação: 2020 Tipo de documento: Article País de afiliação: China

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