COPA syndrome caused by a novel p.Arg227Cys COPA gene variant.

Zheng, Yue; Du, Yue; Wu, Yubin; Li, Fuwei; Gu, Weiyue; Zhao, Chengguang

Zheng, Yue; Du, Yue; Wu, Yubin; Li, Fuwei; Gu, Weiyue; Zhao, Chengguang.

Afiliação

Zheng Y; Department of Pediatrics, Shengjing Hospital of China Medical University, Shenyang, China.
Du Y; Department of Pediatrics, Shengjing Hospital of China Medical University, Shenyang, China.
Wu Y; Department of Pediatrics, Shengjing Hospital of China Medical University, Shenyang, China.
Li F; Beijing Chigene Translational Medical Research Center Co, Beijing, China.
Gu W; Beijing Chigene Translational Medical Research Center Co, Beijing, China.
Zhao C; Department of Pediatrics, Shengjing Hospital of China Medical University, Shenyang, China.

Mol Genet Genomic Med ; 12(1): e2309, 2024 Jan.

Article em En | MEDLINE | ID: mdl-37877458

Assuntos

Artrite; Nefropatias; Humanos; Feminino; Pré-Escolar; Proteína Coatomer/genética; Síndrome; Mutação de Sentido Incorreto; Nefropatias/genética; Artrite/genética

Palavras-chave

ANCA-associated vasculitis; COPA syndrome; arthritis; novel gene variant

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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Artrite / Nefropatias Limite: Child, preschool / Female / Humans Idioma: En Revista: Mol Genet Genomic Med Ano de publicação: 2024 Tipo de documento: Article País de afiliação: China

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