Pathogenic variants identified using whole-exome sequencing in Chinese patients with primary ciliary dyskinesia.

Ye, Yutian; Huang, Qijun; Chen, Lipeng; Yuan, Fang; Liu, Shengguo; Zhang, Xiangxia; Chen, Rongchang; Fu, Yingyun; Yue, Yongjian

Ye, Yutian; Huang, Qijun; Chen, Lipeng; Yuan, Fang; Liu, Shengguo; Zhang, Xiangxia; Chen, Rongchang; Fu, Yingyun; Yue, Yongjian.

Afiliação

Ye Y; Shenzhen Institute of Respiratory Disease, The First Affiliated Hospital of Southern University of Science and Technology, The Second Clinical Medical College of Jinan University, Shenzhen People's Hospital, Shenzhen, Guangdong, China.
Huang Q; Shenzhen Institute of Respiratory Disease, The First Affiliated Hospital of Southern University of Science and Technology, The Second Clinical Medical College of Jinan University, Shenzhen People's Hospital, Shenzhen, Guangdong, China.
Chen L; Clinical Centre, The Second Clinical Medical College of Jinan University, Shenzhen People's Hospital, Shenzhen, Guangdong, China.
Yuan F; Shenzhen Institute of Respiratory Disease, The First Affiliated Hospital of Southern University of Science and Technology, The Second Clinical Medical College of Jinan University, Shenzhen People's Hospital, Shenzhen, Guangdong, China.
Liu S; Shenzhen Institute of Respiratory Disease, The First Affiliated Hospital of Southern University of Science and Technology, The Second Clinical Medical College of Jinan University, Shenzhen People's Hospital, Shenzhen, Guangdong, China.
Zhang X; Shenzhen Institute of Respiratory Disease, The First Affiliated Hospital of Southern University of Science and Technology, The Second Clinical Medical College of Jinan University, Shenzhen People's Hospital, Shenzhen, Guangdong, China.
Chen R; Shenzhen Institute of Respiratory Disease, The First Affiliated Hospital of Southern University of Science and Technology, The Second Clinical Medical College of Jinan University, Shenzhen People's Hospital, Shenzhen, Guangdong, China.
Fu Y; State Key Laboratory of Respiration Diseases, The First Affiliated Hospital Of Guangzhou Medical University, Guangzhou, Guangdong, China.
Yue Y; Shenzhen Institute of Respiratory Disease, The First Affiliated Hospital of Southern University of Science and Technology, The Second Clinical Medical College of Jinan University, Shenzhen People's Hospital, Shenzhen, Guangdong, China.

Am J Med Genet A ; 188(10): 3024-3031, 2022 10.

Article em En | MEDLINE | ID: mdl-35869935

Assuntos

Transtornos da Motilidade Ciliar; Síndrome de Kartagener; Povo Asiático/genética; China; Cílios; Transtornos da Motilidade Ciliar/genética; Humanos; Síndrome de Kartagener/diagnóstico; Síndrome de Kartagener/genética; Mutação; Sequenciamento do Exoma

Palavras-chave

DNAAF3; DNAI1; pathogenic; primary ciliary dyskinesia; whole-exome sequencing

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de Kartagener / Transtornos da Motilidade Ciliar Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans País como assunto: Asia Idioma: En Ano de publicação: 2022 Tipo de documento: Article

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