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Human Mutation, ISSN 1059-7794, 07/2006, Volume 27, Issue 7, pp. 615 - 625
Journal Article
Eye, ISSN 0950-222X, 2007, Volume 21, Issue 5, pp. 587 - 590
Journal Article
Biopolymers and Cell, ISSN 0233-7657, 2008, Volume 24, Issue 1, pp. 60 - 68
Journal Article
Chinese Journal of Medical Genetics, ISSN 1003-9406, 06/2006, Volume 23, Issue 3, pp. 310 - 312
Journal Article
Journal Article
Journal Article
by Chae, H and Kim, M and Kim, Y and Kim, J and Kwon, A and Choi, H and Park, J and Jang, W and Lee, Y.S and Park, S.H and Kim, M.S
Clinical Genetics, ISSN 0009-9163, 06/2016, Volume 89, Issue 6, pp. 678 - 689
Corneal dystrophy typically refers to a group of rare hereditary disorders with a heterogeneous genetic background. A comprehensive molecular genetic analysis... 
posterior polymorphous corneal dystrophy | macular corneal dystrophy | molecular genetic analysis | Thiel–Behnke corneal dystrophy | Fuchs endothelial corneal dystrophy | granular corneal dystrophy | Schnyder corneal dystrophy | lattice corneal dystrophy | Korea | Molecular genetic analysis | Granular corneal dystrophy | Posterior polymorphous corneal dystrophy | Thiel-Behnke corneal dystrophy | Lattice corneal dystrophy | Macular corneal dystrophy | IC3D CLASSIFICATION | MISSENSE MUTATIONS | COL8A2 GENE | HEREDITARY ENDOTHELIAL DYSTROPHY | GENETICS & HEREDITY | BIGH3 GENE | L527R MUTATION | TGFBI GENE-MUTATIONS | JAPANESE PATIENTS | PROTEIN FUNCTION | LATTICE | Sulfotransferases - genetics | Genetic Predisposition to Disease - genetics | Humans | Middle Aged | Asian Continental Ancestry Group - genetics | Corneal Dystrophies, Hereditary - genetics | Family Health | Male | Corneal Dystrophies, Hereditary - ethnology | Zinc Finger E-box-Binding Homeobox 1 - genetics | Transforming Growth Factor beta - genetics | Dimethylallyltranstransferase - genetics | DNA Mutational Analysis | Pedigree | Base Sequence | Adult | Female | Genetic Predisposition to Disease - ethnology | Aged | Mutation | Republic of Korea | Collagen Type VIII - genetics | Genetic aspects | Gene mutations | Analysis | Endothelium | Eye diseases | Cornea | Genetic disorders | Index Medicus
Journal Article
by Li, Y and Li, T and Song, XS and Li, JZ and Wu, QS and Li, HY
INTERNATIONAL JOURNAL OF OPHTHALMOLOGY, ISSN 2222-3959, 06/2012, Volume 5, Issue 3, pp. 301 - 306
AIM: To investigate whether mutations in TGFBIgene or CHST6gene correlated with stromal corneal dystrophies (CD) in 8 Chinese probands. METHODS: Eight... 
sulfotransferse CHST6 | MATRIX PROTEIN BETA-IG-H3 | TGFBI protein | CELL-ADHESION | IDENTIFICATION | carbohydrate | KERATO-EPITHELIN | BIGH3 | PATHOGENESIS | FASCICLIN-I | Mutation screening | OPHTHALMOLOGY | TGFBI GENE-MUTATIONS | GRASSHOPPER | TGFBI gene | EXPRESSION | corneal dystrophies
Journal Article
Expert Review of Molecular Diagnostics, ISSN 1473-7159, 07/2010, Volume 10, Issue 5, pp. 569 - 573
Current knowledge of the genetic variation associated with TGFBI-associated corneal dystrophies has highlighted the possibility of de novo mutations, and also... 
corneal dystrophy | microarray | gene testing | TGFBI | AVELLINO CORNEAL-DYSTROPHY | MELTING ANALYSIS | PATHOLOGY | EXACERBATION | LASIK | CHIP | GENE | DIGENIC INHERITANCE | SPECTRUM | PEDIGREE
Journal Article