DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.-论文-万方医学网

第一作者： Michael S,Hildebrand

第一单位： Department of Otolaryngology-Head and Neck Surgery, University of Iowa, Iowa City, IA 52242, USA.

作者： Michael S,Hildebrand ^[1] ; Matías,Morín ; Nicole C,Meyer ; Fernando,Mayo ; Silvia,Modamio-Hoybjor ; Angeles,Mencía ; Leticia,Olavarrieta ; Carmelo,Morales-Angulo ; Carla J,Nishimura ; Heather,Workman ; Adam P,DeLuca ; Ignacio,del Castillo ; Kyle R,Taylor ; Bruce,Tompkins ; Corey W,Goodman ; Isabelle,Schrauwen ; Maarten Van,Wesemael ; K,Lachlan ; A Eliot,Shearer ; Terry A,Braun ; Patrick L M,Huygen ; Hannie,Kremer ; Guy,Van Camp ; Felipe,Moreno ; Thomas L,Casavant ; Richard J H,Smith ; Miguel A,Moreno-Pelayo

作者单位： Department of Otolaryngology-Head and Neck Surgery, University of Iowa, Iowa City, IA 52242, USA. ^[1]

主题词青少年(Adolescent);成年人(Adult);老年人(Aged);测听法(Audiometry);儿童(Child);儿童, 学龄前(Child, Preschool);细胞外基质蛋白质类(Extracellular Matrix Proteins);女(雌)性(Female);建立者效应(Founder Effect);GPI连接蛋白质类(GPI-Linked Proteins);遗传关联研究(Genetic Association Studies);基因连锁(Genetic Linkage);单倍型(Haplotypes);听觉丧失, 感音神经性(Hearing Loss, Sensorineural);人类(Humans);男(雄)性(Male);中年人(Middle Aged);突变(Mutation);系谱(Pedigree);蛋白质结构, 三级(Protein Structure, Tertiary)

DOI 10.1002/humu.21512

PMID 21520338

发布时间 2021-10-20

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DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.

Human mutation

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Human mutation

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DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.

Human mutation

相似文献

Human mutation

相关期刊

检索历史清除