Novel R252P Mutation of the RHO gene in patients with retinitis pigmentosa from Bashkortostan

被引：0
|
作者：
E. R. Grinberg
L. I. Dzhemileva
E. K. Khusnutdinova
机构：
[1] Russian Academy of Sciences,Institute of Biochemistry and Genetics, Ufa Research Center
来源：
Molecular Biology | 2007年 / 41卷
关键词：
medical genetics; retinitis pigmentosa; polymerase chain reaction; SSCP analysis;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
页码：677 / 679
页数：2
相关论文
共 50 条
  • [1] Novel R252P Mutation of the RHO gene in patients with retinitis pigmentosa from Bashkortostan
    Grinberg, E. R.
    Dzhemileva, L. I.
    Khusnutdinova, E. K.
    MOLECULAR BIOLOGY, 2007, 41 (04) : 677 - 679
  • [2] Novel codon 15 RHO gene mutation associated with retinitis pigmentosa
    Vilela, Manuel A. P.
    Menna Barreto, Roberta K.
    Menna Barreto, Pedro K.
    Sallum, Juliana M. F.
    Mattevi, Vanessa S.
    INTERNATIONAL MEDICAL CASE REPORTS JOURNAL, 2018, 11 : 339 - 344
  • [3] Mutation analysis of RHO gene in 225 Chinese families with retinitis pigmentosa
    Chen, Jianjun
    Han, Liyun
    Fan, Zhaohuan
    Wu, Zehua
    Zhong, Zilin
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2016, 57 (12)
  • [4] Mutation analysis of RHO in patients with non-syndromic retinitis pigmentosa
    Zhuang, Jianfu
    Zhang, Rongcai
    Zhou, Biting
    Cao, Zongfu
    Zhou, Jie
    Chen, Xiaole
    Zhang, Nanwen
    Zhu, Yihua
    Yang, Juhua
    OPHTHALMIC GENETICS, 2024, 45 (02) : 147 - 152
  • [5] Mutation spectrum and frequency of the RHO gene in 248 Chinese families with retinitis pigmentosa
    Li, Shiqiang
    Xiao, Xueshan
    Wang, Panfeng
    Guo, Xiangming
    Zhang, Qingjiong
    BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2010, 401 (01) : 42 - 47
  • [6] A novel mutation in retinitis pigmentosa GTPase regulator gene with a distinctive retinitis pigmentosa phenotype in a Chinese family
    Sheng, Xunlun
    Li, Zili
    Zhang, Xinfang
    Wang, Jing
    Ren, Hongwang
    Sun, Yanbo
    Meng, Ruihua
    Rong, Weining
    Zhuang, Wenjuan
    MOLECULAR VISION, 2010, 16 (174-76): : 1620 - 1628
  • [7] Novel Mutation in Retinitis Pigmentosa GTPase Regulator Gene Causes Primary Ciliary Dyskinesia and Retinitis Pigmentosa
    Sengillo, Jesse D.
    Fridman, Gabrielle
    Cho, Galaxy Y.
    Buchovecky, Christie
    Tsang, Stephen H.
    OPHTHALMIC SURGERY LASERS & IMAGING RETINA, 2018, 49 (07): : 548 - +
  • [8] Identification of novel RHO mutations in patients with autosomal dominant retinitis pigmentosa
    Waseem, NH
    Perkins, A
    Scott, B
    Winchester, E
    Jenkins, S
    Webster, A
    Bird, AC
    Bhattacharya, SS
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2004, 45 : U941 - U941
  • [9] Identification of two novel RHO mutations in Chinese retinitis pigmentosa patients
    Wang, Juan
    Xu, Ding
    Zhu, Tong
    Zhou, Yue
    Chen, Xin
    Wang, Fang
    Zhang, Jieping
    Tian, Haibin
    Gao, Furong
    Zhang, Jingfa
    Jin, Caixia
    Xu, Jingying
    Lu, Lixia
    Liu, Qin
    Xu, Guo-Tong
    EXPERIMENTAL EYE RESEARCH, 2019, 188
  • [10] Identification of a novel mutation in the mevalonate kinase gene associated with retinitis pigmentosa
    Li, Jia
    Royer-Bertrand, Beryl
    Nikopoulos, Konstantinos
    Avila-Fernandez, Almudena
    Corton, Marta
    Sanchez-Alcudia, Rocio
    Ayuso, Carmen
    Rivolta, Carlo
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2015, 56 (07)
12345