Analysis of GPR143 Gene Mutations in Five Chinese Families with the Ocular Albinism Type I

被引：0
|
作者：
Li, Ningdong [1 ]
Jiang, Jingjing [1 ]
机构：
[1] Beijing Children Hosp, Ophthalmol, Beijing, Peoples R China
来源：
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE | 2018年 / 59卷 / 09期
关键词：
D O I：
暂无
中图分类号：
R77 [眼科学];
学科分类号：
100212 ;
摘要：
1030
引用
收藏
页数：2
相关论文
共 50 条
  • [31] New mutations identified in the ocular albinism type 1 gene
    Roma, Cristin
    Ferrante, Paola
    Guardiola, Ombretta
    Ballabio, Andrea
    Zollo, Massimo
    GENE, 2007, 402 (1-2) : 20 - 27
  • [32] CRISPR-AsCas12a Efficiently Corrects a GPR143 Intronic Mutation in Induced Pluripotent Stem Cells from an Ocular Albinism Patient
    Torriano, Simona
    Baulier, Edouard
    Diaz, Alejandro Garcia
    Corneo, Barbara
    Farber, Debora B.
    CRISPR JOURNAL, 2022, 5 (03): : 457 - 471
  • [33] Differences of ocular oscillations and neuro-retinal structures in patients with nystagmus caused by GPR143 and FRMD7 gene variants
    Huang, Lijuan
    Xu, Biru
    Li, Ningdong
    INDIAN JOURNAL OF OPHTHALMOLOGY, 2024, 72 (SUPPL 3) : S509 - S513
  • [34] Molecular analysis of type I oculocutaneous albinism in Chinese
    Wu, JY
    Lin, SP
    Tsai, LP
    Tsai, FJ
    Peng, CT
    Tsai, CH
    EUROPEAN JOURNAL OF HUMAN GENETICS, 1998, 6 : 165 - 165
  • [35] Prenatal diagnosis of oculocutaneous albinism type II and novel mutations in two Chinese families
    Li, Hongyi
    Wei, Haiyun
    Zheng, Hui
    Qing, Wenren
    Duan, Honglei
    Meng, Shu
    Jiang, Weiying
    PRENATAL DIAGNOSIS, 2007, 27 (06) : 502 - 506
  • [36] Tyrosinase gene (TYR) mutations in Chinese patients with oculocutaneous albinism type 1
    Liu, Jing
    Choy, Kwong-Wai
    Chan, Leo W. L.
    Leung, Tak-Yeung
    Tam, Pancy O. S.
    Chiang, Sylvia W. Y.
    Lam, Dennis S. C.
    Pang, Chi-Pui
    Lai, Timothy Y. Y.
    CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY, 2010, 38 (01): : 37 - 42
  • [37] Mutations in the MATP gene in five German patients affected by Oculocutaneous albinism type 4
    Rundshagen, U
    Zühlke, C
    Opitz, S
    Schwinger, E
    Käsmann-Kellner, B
    HUMAN MUTATION, 2004, 23 (02) : 106 - 110
  • [38] Five novel mutations in tyrosinase gene of Japanese and Indian patients with oculocutaneous albinism Type I (OCA1)
    Miyamura, Y
    Verma, IC
    Saxena, R
    Hoshi, M
    Murase, A
    Nakamura, E
    Kono, M
    Suzuki, T
    Yasue, S
    Shibata, SI
    Sakakibara, A
    Tomita, Y
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2005, 125 (02) : 397 - 398
  • [39] Mutations of the tyrosinase gene in three Korean patients with type I oculocutaneous albinism
    Park, KC
    Park, SK
    Lee, YS
    Youn, SW
    Park, BS
    Kim, KH
    Lee, ST
    JAPANESE JOURNAL OF HUMAN GENETICS, 1996, 41 (03): : 299 - 305
  • [40] Mitochondrial gene mutations and type 2 diabetes in Chinese families
    LI MingzhenYU DeminYU PeiLIU DeminWANG Kun and TANG Xinzhi Department of EndocrinologyHealth Ministry Key Laboratory of Hormones and DevelopmentMetabolic Disease Hospital of Tianjin Medical UniversityTianjin China Department of BiochemistryTianjin Medical UniversityTianjin China
    中华医学杂志（英文版）, 2008, (08) : 682 - 686
12345