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Identification of a frame shift mutation in the CCDC151 gene in a Han-Chinese family with Kartagener syndrome

Kartagener syndrome (KS), a subtype of primary ciliary dyskinesia (PCD), is characterized by bronchiectasis, chronic sinusitis, male infertility and situs inversus. KS is a genetically heterogeneous disease that is inherited in an autosomal recessive form; however, X-linked inheritance has also been...

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Detalles Bibliográficos
Autores principales: Deng, Sheng, Wu, Shan, Xia, Hong, Xiong, Wei, Deng, Xiong, Liao, Junxi, Deng, Hao, Yuan, Lamei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Portland Press Ltd. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7298131/
https://www.ncbi.nlm.nih.gov/pubmed/32490514
http://dx.doi.org/10.1042/BSR20192510