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中华医学杂志:英文版, ISSN 0366-6999, 2009, Volume 122, Issue 22, pp. 2691 - 2694
Background Mutations in the transforming growth factor beta I (TGFBI) gene cause several types of autosomal-dominant corneal dystrophies. We investigated the... 
转化生长因子-β | 基因组DNA提取 | 营养不良 | 颗粒状 | 转化生长因子β1 | DNA突变 | Granular corneal dystrophy | Mutation screening | TGFβI gene | GENE-MUTATIONS | PROTEIN | KERATOEPITHELIN | IDENTIFICATION | FAMILY | MEDICINE, GENERAL & INTERNAL | BETA-IG-H3 | mutation screening | BIGH3 GENE | granular corneal dystrophy | SPECTRUM | LATTICE | TGF beta I gene
Journal Article
British Journal of Ophthalmology, ISSN 0007-1161, 06/2005, Volume 89, Issue 6, pp. 771 - 773
  The detection of apple green dichroism by polarised light microscopy was also consistent with amyloid deposition in the middle to deep region of the corneal... 
OPHTHALMOLOGY | IIIA | GENE | FORM | Proteins - genetics | Homozygote | DNA Mutational Analysis | Amyloidosis - genetics | Humans | Middle Aged | Corneal Dystrophies, Hereditary - genetics | Male | Mutation | Gene mutations | Observations | Corneal diseases | Index Medicus | Letter | lattice corneal dystrophy | homozygous mutation
Journal Article
CORNEA, ISSN 0277-3740, 12/2008, Volume 27, Issue 10, pp. S1 - S42
Background: The recent availability of genetic analyses has demonstrated the shortcomings of the current phenotypic method of corneal dystrophy classification.... 
Grayson-Wilbrandt corneal dystrophy | Meesmann corneal dystrophy | TGFBI BIGH3 GENE | pre-Descemet corneal dystrophy | GROENOUW TYPE-I | corneal histopathology | GELSOLIN-RELATED AMYLOIDOSIS | Thiel-Behnke corneal dystrophy | posterior polymorphous corneal dystrophy | epithelial basement membrane dystrophy | POSTERIOR POLYMORPHOUS DYSTROPHY | granular corneal dystrophy 2 | COMPOUND HETEROZYGOUS MUTATIONS | granular corneal dystrophy 1 | genetic corneal disease | Schnyder corneal dystrophy | inherited corneal disease | WHORLED MICROCYSTIC DYSTROPHY | congenital hereditary endothelial dystrophy 1 | congenital hereditary endothelial dystrophy 2 | posterior amorphous corneal dystrophy | central cloudy dystrophy of Francois | macular corneal dystrophy | Schnyder crystalline corneal dystrophy | congenital stromal corneal dystrophy | gene | subepithelial mucinous corneal dystrophy | VIVO CONFOCAL MICROSCOPY | CENTRAL CLOUDY DYSTROPHY | Lisch epithelial corneal dystrophy | corneal dystrophy | eponym | X-linked endothelial corneal dystrophy | mutation | key reference | CARBOHYDRATE SULFOTRANSFERASE GENE | fleck corneal dystrophy | HEREDITARY ENDOTHELIAL DYSTROPHY | epithelial recurrent erosion dystrophy | gelatinous drop-like corneal dystrophy | OPHTHALMOLOGY | Avellino corneal dystrophy | lattice gelsolin type dystrophy | Fuchs endothelial corneal dystrophy | lattice corneal dystrophy | Reis-Bucklers corneal dystrophy
Journal Article
Journal Article
International Journal of Biochemistry and Cell Biology, ISSN 1357-2725, 2007, Volume 39, Issue 12, pp. 2183 - 2194
Journal Article
KLINISCHE MONATSBLATTER FUR AUGENHEILKUNDE, ISSN 0023-2165, 12/2005, Volume 222, Issue 12, pp. 1017 - 1023
Background: Mutations of the BIGH3 gene were delineated as the underlying gene defect for corneal dystrophy Lattice Type I (CDL1) and corneal dystrophy... 
indirect mutation confirmation | PROTEIN | AMYLOID DEPOSITS | BIGH3 gene | corneal dystrophy Avellino type | KERATO-EPITHELIN | AVELLINO | hot-spot mutation | BETA-IG-H3 | FAMILIES | corneal dystrophy lattice type 1 | OPHTHALMOLOGY | TYPE-1
Journal Article
Tropical Doctor, ISSN 0049-4755, 7/2018, Volume 48, Issue 3, pp. 199 - 206
Journal Article
대한안과학회지, ISSN 0378-6471, 2013, Volume 54, Issue 4, p. 667
Purpose: To report the first case of lattice corneal dystrophy, gelsolin type in Korea. Case summary: A 61-year-old man visited our clinic with severe dry eye... 
Amyloidosis | Gelsolin | Lattice corneal dystrophy | Meretoja syndrome
Journal Article
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