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MeSH:(Retinitis Pigmentosa/genetics*)

1.Progress in molecular genetic studies of retinitis pigmentosa.

Youping LI ; Zhenglin YANG

Chinese Journal of Medical Genetics 2015;32(2):280-283

2.Analysis of C2ORF71 gene variant in a Chinese patient with retinitis pigmentosa.

Man LIU ; Yilu LU ; Yongxin MA

Chinese Journal of Medical Genetics 2022;39(1):52-55

3.Identification of a novel RHO mutation in a pedigree affected with retinitis pigmentosa.

Zhouxian BAI ; Lina LIU ; Shuang HU ; Qinghua WU ; Xiangdong KONG

Chinese Journal of Medical Genetics 2019;36(3):234-237

4.Analysis of a patient with early-onset retinitis pigmentosa due to novel variants of CRB1 gene.

Ming YI ; Dachang TAO ; Yuan YANG ; Yunqiang LIU

Chinese Journal of Medical Genetics 2023;40(9):1160-1164

5.Genetic testing and prenatal diagnosis for a Chinese pedigree affected with Meckel-Gruber syndrome.

Zhihui JIAO ; Ganye ZHAO ; Lina LIU ; Yu GUO ; Xiangdong KONG

Chinese Journal of Medical Genetics 2021;38(12):1204-1207

6.Genotyping and CA4 gene analysis in a Chinese family with retinitis pigmentosa.

Xiao-hui ZHANG ; Bing DONG ; Wei-yu YAN ; Ming-hua SHAN ; Yang LI

Chinese Journal of Medical Genetics 2007;24(6):670-673

7.Mutation analysis of retinitis pigmentosa 1 gene in Chinese with retinitis pigmentosa.

Xiaoli ZHANG ; Kwun-Yan YEUNG ; Chi-Pui PANG ; Weiling FU

Chinese Journal of Medical Genetics 2002;19(3):194-197

8.A novel RPGR gene mutation in a Chinese family with X-linked dominant retinitis pigmentosa.

Yang LI ; Bing DONG ; Ai-lian HU ; Tong-tong CUI ; Yuan-yuan ZHENG

Chinese Journal of Medical Genetics 2005;22(4):396-398

9.Disease gene screening of known loci in a Chinese family with autosomal dominant retinitis pigmentosa.

Wei LIU ; Fang LU ; Li-feng QIA ; Zhi-quan SHA ; Xia-oqi LIU ; Shi MA ; Xin TANG ; Jin-xia CHANG ; Zheng-lin YANG ; Bin YE

Chinese Journal of Medical Genetics 2009;26(1):70-73

10.A recurrent rhodopsin gene missense mutation in a Chinese family with autosomal dominant retinitis pigmentosa.

Shayan WANG ; Ruanzhang ZHANG ; Zhilin SHI ; Lili REN ; Jinghui REN

Chinese Journal of Medical Genetics 2005;22(2):192-194

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