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Identification of Novel TMC1 Compound Heterozygous Mutations Related to Autosomal Recessive Hearing Loss by Targeted Capture Sequencing

机译：鉴别靶向捕获测序与常染色体隐性听力损失有关的新型TMC1化合物杂合突变

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Gao Xue; Huang Sha-Sha; Su Yu; Xu Jin-Cao; Dai Pu;
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1. Compound Heterozygous Mutations in TMC1 and MYO15A Are Associated with Autosomal Recessive Nonsyndromic Hearing Loss in Two Chinese Han Families [J] . Pengcheng Xu, Jun Xu, Hu Peng, Journal of Neural Transplantation and Plasticity: Neural Plasticity . 2020,第Supplementa1期

机译：TMC1和MyO15A中的化合物杂合酶突变与两家中国汉族家庭中的常染色体隐性非合成型听力损失有关
2. Autosomal recessive non-syndromic hearing loss is caused by novel compound heterozygous mutations in TMC1 from a Tibetan Chinese family [J] . Lin Fangzhu, Li Dejun, Wang Ping, International journal of pediatric otorhinolaryngology . 2014,第12期

机译：常染色体隐性非综合征性听力损失是由来自藏族家庭的TMC1中的新型复合杂合突变引起的
3. Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing [J] . Xue Gao, Qing-yan Zhu, Yue-Shuai Song, Journal of Translational Medicine . 2013,第1期

机译：通过全外显子组测序鉴定常染色体隐性遗传性耳聋MYO15A基因的新型复合杂合突变
4. Identification of a Novel Compound Heterozygous Variant in NBAS Causing Bone Fragility by the Type of Osteogenesis Imperfecta [C] . D. A. Petukhova, E. E. Gurinova, A. L. Sukhomyasova, International Symposium on Bioinformatics Research and Applications . 2020

机译：通过成骨不全症类型鉴定导致骨骼脆弱的NBAS中的新型复合杂合变体
5. Investigation of daily four month sildenafil administration on heterozygous carriers of a phosphodiesterase 6 mutation in a canine model of autosomal recessive retinitis pigmentosa. [D] . Pierce, Kenneth E., Jr. 2011

机译：在常染色体隐性遗传性视网膜炎的犬模型中，每天四个月西地那非对磷酸二酯酶6突变的杂合子载体给药的研究。
6. Novel Compound Heterozygous TMC1 Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family [O] . Xue Gao, Yu Su, Li-Ping Guan, -1

机译：中国家庭常染色体隐性听力丧失相关的新型复合杂合TMC1突变。
7. Novel compound heterozygous TMC1 mutations associated with autosomal recessive hearing loss in a Chinese family. [O] . Xue Gao, Yu Su, Li-Ping Guan, 2013

机译：新型复合杂合TmC1突变与中国家庭常染色体隐性遗传性听力损失有关。

Identification of Novel TMC1 Compound Heterozygous Mutations Related to Autosomal Recessive Hearing Loss by Targeted Capture Sequencing

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