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首页> 外文期刊>International journal of pediatric otorhinolaryngology >Homozygous mutations in PJVK and MY015A genes associated with non-syndromic hearing loss in Moroccan families
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Homozygous mutations in PJVK and MY015A genes associated with non-syndromic hearing loss in Moroccan families

机译:PJVK的纯合突变和摩洛哥家庭非思想听力损失相关的My015a基因

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摘要

Objectives: Autosomal recessive non-syndromic hearing loss is a heterogeneous disorder and the most prevalent human genetic sensorineural defect. In this study, we investigated the geneticcause of sensorineural hearing loss in Moroccan patients and presented the importance of whole exome sequencing (WES) to identify candidate genes in two Moroccan families with profound deafness.
机译:目的:常染色体隐性非综合征听力丧失是一种异质疾病和最普遍的人类遗传感觉缺陷。 在这项研究中,我们研究了摩洛哥患者的感觉神经听力损失的遗传,并呈现了整个Exome测序(WES)的重要性,以识别两种摩洛哥家庭的候选基因,具有深刻的耳聋。

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