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Mutation analysis of the WFS1 gene in a Chinese family with autosomal-dominant non-syndrome deafness
To analyse the pathogenic genes and mutations of a family with hereditary deafness. We recruited a three-generation family with NSHL. A detailed medical history inquiry and related examinations were performed. Next-generation sequencing (NGS) was used to confirm the gene mutation in the proband, and...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9789122/ https://www.ncbi.nlm.nih.gov/pubmed/36564540 http://dx.doi.org/10.1038/s41598-022-26850-3 |