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Whole-Exome Sequencing Identified a Novel Compound Heterozygous Mutation of LRRC6 in a Chinese Primary Ciliary Dyskinesia Patient

Primary ciliary dyskinesia (PCD) is a clinical rare peculiar disorder, mainly featured by respiratory infection, tympanitis, nasosinusitis, and male infertility. Previous study demonstrated it is an autosomal recessive disease and by 2017 almost 40 pathologic genes have been identified. Among them a...

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Detalles Bibliográficos
Autores principales:	Liu, Lv, Luo, Hong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi 2018
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5817365/ https://www.ncbi.nlm.nih.gov/pubmed/29511670 http://dx.doi.org/10.1155/2018/1854269

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