A Novel USH2A Gene Mutation in a Family with Retinitis Pigmentosa

被引：0
|
作者：
Li, Zuejiao [1 ]
机构：
[1] Sanmenxia Cent Hosp, Sanmenxia, Peoples R China
来源：
JOURNAL OF THE AMERICAN COLLEGE OF SURGEONS | 2022年 / 235卷 / 05期
关键词：
D O I：
10.1097/01.XCS.0000893896.19450.9a
中图分类号：
R61 [外科手术学];
学科分类号：
摘要：
引用
收藏
页码：S122 / S122
页数：1
相关论文
共 50 条
  • [1] Mutation Analysis of the USH2A Gene in Japanese Patients with Autosomal Recessive Retinitis Pigmentosa
    Hosono, Katsuhiro
    Zhao, Yang
    Ishigami, Chie
    Ueno, Shinji
    Nakanishi, Hiroshi
    Terasaki, Hiroko
    Kondo, Mineo
    Takahashi, Masayo
    Minoshima, Shinsei
    Hotta, Yoshihiro
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2014, 55 (13)
  • [2] Novel deletions involving the USH2A gene in patients with Usher syndrome and retinitis pigmentosa
    Garcia-Garcia, Gema
    Aller, Elena
    Jaijo, Teresa
    Aparisi, Maria J.
    Larrieu, Lise
    Faugere, Valerie
    Blanco-Kelly, Fiona
    Ayuso, Carmen
    Roux, Anne-Francoise
    Millan, Jose M.
    MOLECULAR VISION, 2014, 20 : 1398 - 1410
  • [3] Missense mutation in the USH2A gene:: Association with recessive retinitis pigmentosa without hearing loss
    Rivolta, C
    Sweklo, EA
    Berson, EL
    Dryja, TP
    AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 66 (06) : 1975 - 1978
  • [4] Mutation screening of the USH2A gene in retinitis pigmentosa and USHER patients in a Han Chinese population
    Huang, Lulin
    Mao, Yao
    Yang, Jiyun
    Li, Yuanfeng
    Li, Yang
    Yang, Zhenglin
    EYE, 2018, 32 (10) : 1608 - 1614
  • [5] Mutation screening of the USH2A gene in retinitis pigmentosa and USHER patients in a Han Chinese population
    Lulin Huang
    Yao Mao
    Jiyun Yang
    Yuanfeng Li
    Yang Li
    Zhenglin Yang
    Eye, 2018, 32 : 1608 - 1614
  • [6] Disease Course in Patients with Autosomal Recessive Retinitis Pigmentosa due to the USH2A Gene
    Sandberg, Michael A.
    Rosner, Bernard
    Weigel-DiFranco, Carol
    McGee, Terri L.
    Dryja, Thaddeus P.
    Berson, Eliot L.
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2008, 49 (12) : 5532 - 5539
  • [7] Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2
    Kaiserman, Nadia
    Obolensky, Alexey
    Banin, Eyal
    Sharon, Dror
    ARCHIVES OF OPHTHALMOLOGY, 2007, 125 (02) : 219 - 224
  • [8] Exome sequencing identified five novel USH2A variants in Korean patients with retinitis pigmentosa
    Jung, SeungHee
    Park, Young Chan
    Lee, DongHee
    Kim, SiYeon
    Kim, Sang-Mo
    Kim, YoungJin
    Lee, DongHyun
    Hyun, JaeJoung
    Koh, InSong
    Lee, Jong-Young
    OPHTHALMIC GENETICS, 2023, 44 (02) : 163 - 170
  • [9] Novel compound heterozygous variants in the USH2A gene associated with autosomal recessive retinitis pigmentosa without hearing loss
    Huang, Yanxia
    Yuan, Lamei
    He, Guiyun
    Cao, Yanna
    Deng, Xiong
    Deng, Hao
    FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY, 2023, 11
  • [10] Uniparental primary heterodisomy with bitelomeric isodisomyh of chromosome 1 in a patient with onsyndromic retinitis pigmentosa and a mutation in the Usher syndrome gene USH2A
    Rivolta, C
    Berson, EL
    Dryja, TP
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2002, 43 : U570 - U570
12345