Identification of new mutations in PRPF31, the autosomal dominant retinitis pigmentosa gene on 19q13.4

被引：0
|
作者：
Bhattacharya, SS [1 ]
Safieh, L [1 ]
Vithana, E [1 ]
Papaioannour, M [1 ]
Moore, AT [1 ]
Bird, AC [1 ]
Hunt, DM [1 ]
机构：
[1] Inst Ophthalmol, London, England
来源：
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE | 2002年 / 43卷
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：
794
引用
收藏
页码：U170 / U170
页数：1
相关论文
共 50 条
  • [1] Identification of Large Deletions in PRPF31 in Autosomal Dominant Retinitis Pigmentosa
    Rose, A. M.
    Webster, A. R.
    Mukhopadhyay, R.
    Bhattacharya, S. S.
    Waseem, N. H.
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2010, 51 (13)
  • [2] Identification of photoreceptor genes affected by PRPF31 mutations associated with autosomal dominant retinitis pigmentosa
    Mordes, Daniel
    Yuan, Liya
    Xu, Lili
    Kawada, Mariko
    Molday, Robert S.
    Wu, Jane Y.
    NEUROBIOLOGY OF DISEASE, 2007, 26 (02) : 291 - 300
  • [3] Novel PRPF31 mutations associated with Chinese autosomal dominant retinitis pigmentosa patients
    Xu, Fei
    Sui, Ruifang
    Liang, Xiaofang
    Li, Hui
    Jiang, Ruxin
    Dong, Fangtian
    MOLECULAR VISION, 2012, 18 (308-09): : 3021 - 3028
  • [4] Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa
    Sullivan, Lori S.
    Bowne, Sara J.
    Seaman, C. Robyn
    Blanton, Susan H.
    Lewis, Richard A.
    Heckenlively, John R.
    Birch, David G.
    Hughbanks-Wheaton, Dianna
    Daiger, Stephen P.
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2006, 47 (10) : 4579 - 4588
  • [5] Identification of novel mutations in the PRPF31 gene (RP11) in patients with autosomal dominant retinitis pigmentosa with reduced penetrance
    McGee, TL
    Berson, EL
    Dryja, TP
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2002, 43 : U169 - U169
  • [6] Mutations in the Pre-mRNA splicing gene, PRPF31, in Japanese families with autosomal dominant retinitis pigmentosa
    Sato, H
    Wada, Y
    Itabashi, T
    Nakamura, M
    Kawamura, M
    Tamai, M
    AMERICAN JOURNAL OF OPHTHALMOLOGY, 2005, 140 (03) : 537 - 540
  • [7] Autosomal dominant retinitis pigmentosa with incomplete penetrance due to an intronic mutation of the PRPF31 gene
    Ali-Nasser, Tahleel
    Zayit-Soudry, Shiri
    Banin, Eyal
    Sharon, Dror
    Ben-Yosef, Tamar
    MOLECULAR VISION, 2022, 28 : 359 - 368
  • [8] Identification of two novel PRPF31 mutations in Chinese families with non-syndromic autosomal dominant retinitis pigmentosa
    Cao, Li
    Peng, Chunyan
    Yu, Jing
    Jiang, Wei
    Yang, Jiyun
    MOLECULAR GENETICS & GENOMIC MEDICINE, 2020, 8 (12):
  • [9] Mutations in the gene coding for the pre-mRNA splicing factor, PRPF31, in patients with autosomal dominant retinitis pigmentosa
    Waseem, Naushin H.
    Vaclavik, Veronika
    Webster, Andrew
    Jenkins, Sharon A.
    Bird, Alan C.
    Bhattacharya, Shomi S.
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2007, 48 (03) : 1330 - 1334
  • [10] Targeted Next Generation Sequencing Revealed Novel PRPF31 Mutations in Autosomal Dominant Retinitis Pigmentosa
    Xie, Dan
    Peng, Kun
    Yi, Qian
    Liu, Wenjinag
    Yang, Yeming
    Sun, Kuanxiang
    Zhu, Xianjun
    Lu, Fang
    GENETIC TESTING AND MOLECULAR BIOMARKERS, 2018, 22 (07) : 425 - 432
12345