A novel null mutation in the rhodopsin gene causing late onset autosomal dominant retinitis pigmentosa

被引：9

作者：

Sanchez, B

Borrego, S

Chaparro, P

Rueda, T

Lopez, F

Antinolo, G

机构：

[1] HOSP UNIV VIRGEN DEL ROCIO,UNIDAD GENET MED,E-41013 SEVILLE,SPAIN

[2] HOSP UNIV VIRGEN DEL ROCIO,SERV NEUROFISIOL,E-41013 SEVILLE,SPAIN

[3] HOSP UNIV VIRGEN DEL ROCIO,SERV OFTALMOL,E-41013 SEVILLE,SPAIN

来源：

HUMAN MUTATION | 1996年 / 7卷 / 02期

关键词：

D O I：

10.1002/humu.1380070202

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页码：180 / 180

页数：1

共 50 条

[1] Search for mutation of the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa
[J]. CHINESE MEDICAL JOURNAL, 1993, (06)
[2] Identification of a rhodopsin gene mutation in a large family with autosomal dominant retinitis pigmentosa
Yu, Xinping
Shi, Wei
Cheng, Lulu
Wang, Yanfang
Chen, Ding
Hu, Xuting
Xu, Jinling
Xu, Limin
Wu, Yaming
Qu, Jia
Gu, Feng
[J]. SCIENTIFIC REPORTS, 2016, 6
[3] Rhodopsin gene mutation analysis in Iranian patients with autosomal dominant retinitis pigmentosa
Danial Roshandel
Maryam Rafati
Sara Khorami
Nima Novin Baheran
Setareh Jalali
Razieh Tabatabaie
Safura Rezai
Hamid Ahmadieh
Saeed Reza Ghaffari
[J]. International Ophthalmology, 2019, 39 : 2523 - 2531
[4] Identification of a rhodopsin gene mutation in a large family with autosomal dominant retinitis pigmentosa
Xinping Yu
Wei Shi
Lulu Cheng
Yanfang Wang
Ding Chen
Xuting Hu
Jinling Xu
Limin Xu
Yaming Wu
Jia Qu
Feng Gu
[J]. Scientific Reports, 6
[5] Rhodopsin gene mutation analysis in Iranian patients with autosomal dominant retinitis pigmentosa
Roshandel, Danial
Rafati, Maryam
Khorami, Sara
Baheran, Nima Novin
Jalali, Setareh
Tabatabaie, Razieh
Rezai, Safura
Ahmadieh, Hamid
Ghaffari, Saeed Reza
[J]. INTERNATIONAL OPHTHALMOLOGY, 2019, 39 (11) : 2523 - 2531
[6] A NULL MUTATION WITHIN THE RHODOPSIN GENE IN A FAMILY WITH AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA
ROSENFELD, PJ
COWLEY, GS
HAHN, LB
SANDBERG, MA
BERSON, EL
DRYJA, TP
[J]. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 1992, 33 (04) : 1397 - 1397
[7] MUTATION SPECTRUM OF THE RHODOPSIN GENE AMONG PATIENTS WITH AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA
DRYJA, TP
HAHN, LB
MCGEE, TL
COWLEY, GS
BERSON, EL
[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1991, 49 (04) : 2 - 2
[8] MUTATION SPECTRUM OF THE RHODOPSIN GENE AMONG PATIENTS WITH AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA
DRYJA, TP
HAHN, LB
COWLEY, GS
MCGEE, TL
BERSON, EL
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1991, 88 (20) : 9370 - 9374
[9] MUTATION SPECTRUM OF THE RHODOPSIN GENE AMONG PATIENTS WITH AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA
DRYJA, TP
HAHN, LB
MCGEE, TL
COWLEY, GS
BERSON, EL
[J]. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 1991, 32 (04) : 890 - 890
[10] Progress in Gene Therapy for Rhodopsin Autosomal Dominant Retinitis Pigmentosa
Sudharsan, Raghavi
Beltran, William A.
[J]. RETINAL DEGENERATIVE DISEASES: MECHANISMS AND EXPERIMENTAL THERAPY, 2019, 1185 : 113 - 118

← 1 2 3 4 5 →