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A novel LOXHD1 variant in a Chinese couple with hearing loss

OBJECTIVE: To perform molecular diagnosis and genetic counseling in a young Chinese couple with congenital hearing loss. METHODS: Variant screening analysis was performed by PCR and direct Sanger sequencing or targeted next-generation sequencing of all known hearing loss genes. Novel variants were e...

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Detalles Bibliográficos
Autores principales:	Zhang, Chuan, Hao, Shengju, Liu, Yali, Zhou, Bingbo, Liu, Furong, Zheng, Lei, Ma, Panpan, Liu, Qing, Lin, Xiaojuan, Yan, Yousheng, Zhang, Qinghua
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	SAGE Publications 2019
Materias:	Clinical Research Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7045666/ https://www.ncbi.nlm.nih.gov/pubmed/31709873 http://dx.doi.org/10.1177/0300060519884197

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