换一批
换一批
第一作者：
Shujiro B,Minami
第一单位：
Department of Otolaryngology, National Hospital Organization Tokyo Medical Center, Tokyo, Japan; Laboratory of Auditory Disorders, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
作者：
关键词
AABRABRAOAEConnexin 26Cx26DFNB1HIHereditary hearing lossI/II/NINHSNI/NINewborn hearing screeningPolyPhen-2auditory brainstem-evoked responseautomated auditory brainstem responseautomated otoacoustic emissionsbiallelic inactivatingbiallelic non-inactivatingcompound heterozygous inactivating/non-inactivatingconnexin 26hearing impairmentnewborn hearing screeningpolymorphism phenotyping v2
主题词
氨基酸序列(Amino Acid Sequence);儿童, 学龄前(Child, Preschool);连接蛋白类(Connexins);遗传关联研究(Genetic Association Studies);听觉丧失(Hearing Loss);杂合子(Heterozygote);人类(Humans);婴儿(Infant);婴儿, 新生(Infant, Newborn);分子序列数据(Molecular Sequence Data);突变(Mutation);新生儿筛查(Neonatal Screening)
DOI
10.1016/j.gene.2013.08.094
PMID
24013081
发布时间
2020-11-13
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Gene
41-5页
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