共 50 条
- [1] A novel peripherin/RDS mutation resulting in a retinal dystrophy with phenotypic variation Eye, 2009, 23 : 237 - 239
- [2] A novel complex mutation event in the peripherin/RDS gene in a family with retinal pattern dystrophy RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES, 2006, 26 (08): : 947 - 953
- [3] Intrafamiliar phenotypic variation in an autosomal dominant retinal dystrophy caused by Gly208Asp RDS-peripherin mutation MEDICINA CLINICA, 2002, 118 (18): : 716 - 716
- [9] Autosomal dominant pattern dystrophy -: Identification of a novel splice site mutation in the peripherin/RDS gene RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES, 2005, 25 (08): : 999 - 1004
- [10] PATTERN DYSTROPHY AND RETINITIS-PIGMENTOSA CAUSED BY A PERIPHERIN RDS MUTATION RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES, 1995, 15 (01): : 68 - 72