CORC

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CORC

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Molecular insights into the human CLC-7/Ostm1 transporter 期刊论文
SCIENCE ADVANCES, 2020, 卷号: 6, 期号: 33, 页码: 10
作者:  Zhang, Sensen;  Liu, Yang;  Zhang, Bing;  Zhou, Jun;  Li, Tianyu
收藏  |  浏览/下载：17/0  |  提交时间：2020/12/24
A novel nonsense mutation in ADAMTS17 caused autosomal recessive inheritance Weill-Marchesani syndrome from a Chinese family 期刊论文
JOURNAL OF HUMAN GENETICS, 2019, 卷号: 64, 期号: 7
作者:  Yi, Haoan;  Zha, Xu;  Zhu, Yuechun;  Lv, Jin;  Hu, Shouzhi
收藏  |  浏览/下载：7/0  |  提交时间：2019/12/04
Novel mutations in HINT1 gene cause the autosomal recessive axonal neuropathy with neuromyotonia 期刊论文
EUROPEAN JOURNAL OF MEDICAL GENETICS, 2019, 卷号: 62, 期号: 3
作者:  Wang, Zhangyang;  Lin, Jie;  Qiao, Kai;  Cai, Shuang;  Zhang, Victor W.
收藏  |  浏览/下载：12/0  |  提交时间：2019/12/05
CRB2 mutation causes autosomal recessive retinitis pigmentosa 期刊论文
EXPERIMENTAL EYE RESEARCH, 2019, 卷号: 180
作者:  Sun, Ruxu;  Chen, Xue;  Jiang, Chao;  Yang, Daidi;  Wang, Min
收藏  |  浏览/下载：22/0  |  提交时间：2019/12/05
Clinical features and genetic spectrum in Chinese patients with recessive hereditary spastic paraplegia 期刊论文
TRANSLATIONAL NEURODEGENERATION, 2019, 卷号: 8
作者:  Wei, Qiao;  Dong, Hai-Lin;  Pan, Li-Ying;  Chen, Cong-Xin;  Yan, Yang-Tian
收藏  |  浏览/下载：6/0  |  提交时间：2019/12/05
A Novel CNGA1 Gene Mutation (c.G622A) of Autosomal Recessive Retinitis Pigmentosa Leads to the CNGA1 Protein Reduction on Membrane 期刊论文
BIOCHEMICAL GENETICS, 2019, 卷号: 57, 期号: 4
作者:  Gao, Qing;  Liu, Yifan;  Lei, Xinlan;  Deng, Qinqin;  Tong, Yongqing
收藏  |  浏览/下载：10/0  |  提交时间：2019/12/05
GJB2 c.235delC variant associated with autosomal recessive nonsyndromic hearing loss and auditory neuropathy spectrum disorder. 期刊论文
Genetics and molecular biology, 2019
作者:  Hong Xia;  Xiangjun Huang;  Hongbo Xu;  Yong-An Zhou;  Lina Gong
收藏  |  浏览/下载：24/0  |  提交时间：2019/12/13
GJB2 c.235delC variant associated with autosomal recessive nonsyndromic hearing loss and auditory neuropathy spectrum disorder 期刊论文
Genet Mol Biol, 2019, 卷号: Vol.42 No.1, 页码: 48-51
作者:  Hong Xia;  Xiangjun Huang;  Hongbo Xu;  Yong-an Zhou;  Lina Gong
收藏  |  浏览/下载：77/0  |  提交时间：2019/12/13
GJB2 c.235delC variant associated with autosomal recessive nonsyndromic hearing loss and auditory neuropathy spectrum disorder. 期刊论文
Genetics and molecular biology, 2019, 卷号: Vol.42 No.1, 页码: 48-51
作者:  Hong Xia;  Xiangjun Huang;  Hongbo Xu;  Yong-An Zhou;  Lina Gong
收藏  |  浏览/下载：13/0  |  提交时间：2019/12/17
A rare deep intronic mutation of PKHD1 gene, c.8798-459 C > A, causes autosomal recessive polycystic kidney disease by pseudoexon activation. 期刊论文
Journal of human genetics, 2019
作者:  Chen Jing;  Ma Na;  Zhao Xiaomeng;  Li Wen;  Zhang Qianjun
收藏  |  浏览/下载：6/0  |  提交时间：2019/12/13

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