Identification of Hearing Loss‐Associated Variants of PTPRQ, MYO15A, and SERPINB6 in Pakistani Families
U Mahmood, SA Bukhari, M Ali… - BioMed Research …, 2021 - Wiley Online Library
The inner ear is an essential part of a well‐developed and well‐coordinated hearing system.
However, hearing loss can make communication and interaction more difficult. Inherited …
However, hearing loss can make communication and interaction more difficult. Inherited …
USH1C 基因内含子新突变导致一耳聋家系的研究
赵涛涛， 马秀丽， 林垦， 明澄， 马静 - 中国耳鼻咽喉头颈外科, 2023 - entbjb.com
目的对一个耳聋家系, 应用高通量测序技术, Minigene 实验, 对其听力损失病因及分子生物学致
病原因进行探究. 方法首先采集先证者及家系成员的病史, 绘制家系图, 并进行听力学评估及耳部 …
病原因进行探究. 方法首先采集先证者及家系成员的病史, 绘制家系图, 并进行听力学评估及耳部 …