Compound Heterozygous Variants in the Coiled-Coil Domain Containing 40 Gene in a Chinese Family with Primary Ciliary Dyskinesia Cause Extreme Phenotypic Diversity in Cilia Ultrastructure.

Yang, Lin; Banerjee, Santasree; Cao, Jie; Bai, Xiaohong; Peng, Zhijun; Chen, Haixia; Huang, Hui; Han, Peng; Feng, Shunyu; Yi, Na; Song, Xueru; Wu, Jing

Yang, Lin; Banerjee, Santasree; Cao, Jie; Bai, Xiaohong; Peng, Zhijun; Chen, Haixia; Huang, Hui; Han, Peng; Feng, Shunyu; Yi, Na; Song, Xueru; Wu, Jing.

Afiliação

Yang L; Centre for Reproductive Medicine, Tianjin Medical University General Hospital, Tianjin, China.
Banerjee S; BGI Genomics, BGI-Shenzhen, Shenzhen, China.
Cao J; Department of Respiratory, Tianjin Medical University General Hospital, Tianjin, China.
Bai X; Centre for Reproductive Medicine, Tianjin Medical University General Hospital, Tianjin, China.
Peng Z; Department of Radiology, Tianjin Medical University General Hospital, Tianjin, China.
Chen H; Centre for Reproductive Medicine, Tianjin Medical University General Hospital, Tianjin, China.
Huang H; BGI Genomics, BGI-Shenzhen, Shenzhen, China.
Han P; BGI Genomics, BGI-Shenzhen, Shenzhen, China.
Feng S; BGI Genomics, BGI-Shenzhen, Shenzhen, China.
Yi N; BGI Genomics, BGI-Shenzhen, Shenzhen, China.
Song X; Centre for Reproductive Medicine, Tianjin Medical University General Hospital, Tianjin, China.
Wu J; BGI Genomics, BGI-Shenzhen, Shenzhen, China.

Front Genet ; 9: 23, 2018.

Article em En | MEDLINE | ID: mdl-29456554

Palavras-chave

CCDC40; PCD; intracytoplasmic sperm injection; mRNA expression; targeted next-generation sequencing

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Revista: Front Genet Ano de publicação: 2018 Tipo de documento: Article País de afiliação: China

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