欢迎您！东篱公司
退出
-
申报数据库
-
立项数据库
-
成果数据库
-
项目获奖数据库
中文摘要：
遗传性耳聋包括非综合征型耳聋non—syndromic hearing impairment，NSHI）和综合征型耳聋（syndromic hearing impairment，SHI），其中NSHI占70％，，遗传缺陷是以感音神经性聋为主，基本无其他异常；SHI占30％，临床表现除听力障碍以外还伴有其他症状和体征。迄今为止，发现400多个遗传性综合征与耳聋有关，140多个基因位点与NSHI有关，确定60多个耳聋基因。
同期刊论文项目
同项目期刊论文
Novel compound heterozygous mutations in theMYO15A gene in autosomal recessive hearing lossidentifie
Genetic mutations in nonsyndromic deafness patients of Chinese minority and han ethnicities in Yunna
Novel Compound Heterozygous TMC1 MutationsAssociated with Autosomal Recessive Hearing Loss in aChine
Novel Compound Heterozygous TMC1 Mutations Associated with Autosomal Recessive Hearing Loss in a Chi
Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identif
Identification of a p.R143Q dominant mutation in the gap junction beta-2 gene in three Chinese patie
Common Molecular Etiologies Are Rare in Nonsyndromic Tibetan Chinese Patients with Hearing Impairmen
Rapid screening for the mitochondrial DNA C1494T mutation in a deaf population in China using real-t
SLC26A4 gene copy number variations in Chinese patients with non-syndromic enlarged vestibular aqued
Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini def
Analysis of the heteroplasmy level and transmitted features in hearing-loss pedigrees with mitochond
Novel missense mutations in MYO7A underlying postlingual high- or low-frequency non-syndromic hearin
Functional mutation of SMAC/DIABLO, encoding a mitochondrial proapoptotic protein, causes human prog
Mutation Spectrum of CommonDeafness-Causing Genes in Patients with Non-Syndromic Deafness in the Xia
Rapid identification of aminoglycoside-induced deafness gene mutationsusing multiplex real-time poly
Targeted gene capture and massively parallel sequencing identify TMC1 asthe causative gene in a six-
期刊信息
位置：