共 50 条
- [3] Exclusion of known corneal dystrophy genes in an autosomal dominant pedigree of a unique anterior membrane corneal dystrophy MOLECULAR VISION, 2009, 15 (182): : 1700 - 1708
- [8] 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
- [9] Identification of a recurrent insertion mutation in the LDLR gene in a Pakistani family with autosomal dominant hypercholesterolemia Molecular Biology Reports, 2010, 37 : 3869 - 3875