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A Novel Decorin Gene Mutation in Congenital Hereditary Stromal Dystrophy: A Korean Family |
Jung Hye Lee, Chang-Seok Ki, Eui-Sang Chung, Tae-Young Chung |
Korean J Ophthalmol. 2012;26(4):301-305. Published online July 24, 2012 DOI: https://doi.org/10.3341/kjo.2012.26.4.301 |
A Novel Decorin Gene Mutation in Congenital Hereditary Stromal Dystrophy: A Korean Family Congenital Stromal Dystrophy of the Cornea Caused by a Mutation in the Decorin Gene Congenital Hereditary Stromal Dystrophy Congenital Hereditary Stromal Dystrophy A Second Decorin Frame Shift Mutation in a Family With Congenital Stromal Corneal Dystrophy A novel SPAST gene mutation identified in a Chinese family with hereditary spastic paraplegia A novel SPAST gene mutation identified in a Chinese family with hereditary spastic paraplegia Hereditary Crystalline Stromal Dystrophy of Schnyder Identification of novel pathogenic F13A1 mutation and novel NBEAL2 gene missense mutation in a pedigree with hereditary congenital factor XIII deficiency Missense mutation inSLC4A11in two Pakistani families affected with congenital hereditary endothelial dystrophy (CHED2) |