Mutational analysis of EYA1, SIX1 and SIX5 genes and strategies for management of hearing loss in patients with BOR/BO syndrome.
作者:
主题词
青少年(Adolescent);成年人(Adult);选择性剪接(Alternative Splicing);碱基序列(Base Sequence);鳃耳肾综合征(Branchio-Oto-Renal Syndrome);儿童(Child);DNA突变分析(DNA Mutational Analysis);疾病管理(Disease Management);中耳(Ear, Middle);女(雌)性(Female);遗传关联研究(Genetic Association Studies);疾病遗传易感性(Genetic Predisposition to Disease);听觉丧失(Hearing Loss);同源盒结构域蛋白质类(Homeodomain Proteins);人类(Humans);婴儿(Infant);细胞内信号肽和蛋白质类(Intracellular Signaling Peptides and Proteins);分子序列数据(Molecular Sequence Data);核蛋白质类(Nuclear Proteins);点突变(Point Mutation);多态现象, 遗传(Polymorphism, Genetic);蛋白质酪氨酸磷酸酶类(Protein Tyrosine Phosphatases);RNA, 信使(RNA, Messenger);放射摄影术(Radiography);序列缺失(Sequence Deletion);颞骨(Temporal Bone);青年人(Young Adult)
DOI
10.1371/journal.pone.0067236
PMID
23840632
发布时间
2022-03-16
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