Rhodopsin gene mutation analysis in Iranian patients with autosomal dominant retinitis pigmentosa

被引：0
|
作者：
Danial Roshandel
Maryam Rafati
Sara Khorami
Nima Novin Baheran
Setareh Jalali
Razieh Tabatabaie
Safura Rezai
Hamid Ahmadieh
Saeed Reza Ghaffari
机构：
[1] Shahid Beheshti University of Medical Sciences,Ocular Tissue Engineering Research Center
[2] ACECR,Reproductive Biotechnology Research Center, Avicenna Research Institute
[3] Hope Generation Foundation,Fetal Health Research Center
[4] Gene Clinic,Ophthalmic Research Center
[5] Shahid Beheshti University of Medical Sciences,undefined
来源：
International Ophthalmology | 2019年 / 39卷
关键词：
Retinitis pigmentosa; Rhodopsin; Mutation; Genotype–phenotype correlation;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
页码：2523 / 2531
页数：8
相关论文
共 50 条
  • [31] A COMPLETE SCREEN FOR MUTATIONS OF THE RHODOPSIN GENE IN A PANEL OF CHINESE PATIENTS WITH AUTOSOMAL DOMINANT RETINITIS PIGMENTOSA
    Xiao-li Zhang1
    Chinese Medical Sciences Journal, 2005, (01) : 30 - 34
  • [32] Rhodopsin mutation G109R in a family with autosomal dominant retinitis pigmentosa
    Goliath, R
    Bardien, S
    September, A
    Martin, R
    Ramesar, R
    Greenberg, J
    HUMAN MUTATION, 1998, : S40 - S41
  • [33] Rhodopsin gene codon 106 mutation (Gly-to-Arg) in a Japanese family with autosomal dominant retinitis pigmentosa
    Budu
    Matsumoto, M
    Hayasaka, S
    Yamada, T
    Hayasaka, Y
    JAPANESE JOURNAL OF OPHTHALMOLOGY, 2000, 44 (06) : 610 - 614
  • [34] AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA - A MUTATION IN CODON 178 OF THE RHODOPSIN GENE IN 2 FAMILIES OF CELTIC ORIGIN
    FARRAR, GJ
    KENNA, P
    REDMOND, R
    SHIELS, D
    MCWILLIAM, P
    HUMPHRIES, MM
    SHARP, EM
    JORDAN, S
    KUMARSINGH, R
    HUMPHRIES, P
    GENOMICS, 1991, 11 (04) : 1170 - 1171
  • [35] Histopathology and phenotype of autosomal dominant retinitis pigmentosa caused by the Gly-106-Arg rhodopsin gene mutation
    Banin, E
    Cideciyan, AV
    Li, ZY
    Nathans, J
    Jacobson, SG
    Milam, AH
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 1997, 38 (04) : 1451 - 1451
  • [36] IDENTIFICATION OF NOVEL RHODOPSIN MUTATIONS IN PATIENTS WITH AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA
    BHATTACHARYA, SS
    INGLEHEARN, CF
    KEEN, J
    LESTER, D
    BASHIR, R
    JAY, M
    BIRD, AC
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 1991, 32 (04) : 890 - 890
  • [37] Therapy in Rhodopsin-Mediated Autosomal Dominant Retinitis Pigmentosa
    Meng, Da
    Ragi, Sara D.
    Tsang, Stephen H.
    MOLECULAR THERAPY, 2020, 28 (10) : 2139 - 2149
  • [38] RHODOPSIN MUTATIONS AND PHENOTYPE IN AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA
    INGLEHEARN, CF
    KEEN, TJ
    LESTER, DH
    BASHIR, R
    JAY, M
    BIRD, AC
    BHATTACHARYA, SS
    CYTOGENETICS AND CELL GENETICS, 1991, 58 (3-4): : 1878 - 1879
  • [39] RHODOPSIN MUTATIONS IN AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA
    ALMAGHTHEH, M
    GREGORY, C
    INGLEHEARN, C
    HARDCASTLE, A
    BHATTACHARYA, S
    HUMAN MUTATION, 1993, 2 (04) : 249 - 255
  • [40] Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual
    Beryozkin, Avigail
    Levy, Gal
    Blumenfeld, Anat
    Meyer, Segev
    Namburi, Prasanthi
    Morad, Yair
    Gradstein, Libe
    Swaroop, Anand
    Banin, Eyal
    Sharon, Dror
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2016, 57 (03) : 940 - 947
12345