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genetic aspects (15) 15
hereditary amyloidosis (15) 15
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genetics & heredity (14) 14
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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
Indian Journal of Ophthalmology, ISSN 0301-4738, 05/2018, Volume 66, Issue 5, pp. 666 - 672
Journal Article
Investigative ophthalmology & visual science, ISSN 0146-0404, 03/2019, Volume 60, Issue 4, pp. 978 - 989
Journal Article
Journal Article
Journal Article
Biochemistry, ISSN 0006-2960, 12/2017, Volume 56, Issue 49, pp. 6470 - 6480
Mutations in the transforming growth factor beta-induced protein (TGFBIp) cause phenotypically diverse corneal dystrophies, where protein aggregation in the... 
ISOASPARTATE FORMATION | PEPTIDES | AMYLOID FORMATION | BETA-IG-H3 | ALZHEIMERS-DISEASE | STABILITY | BIOCHEMISTRY & MOLECULAR BIOLOGY | PURIFICATION | MOLECULAR CLOCKS | TGFBI GENE | LATTICE | Nuclear magnetic resonance spectroscopy | Amides | Usage | Liquid chromatography | Chemical properties | Index Medicus
Journal Article
Journal Article
by Ying Hu and Chi Liu
Guoji Yanke Zazhi, ISSN 1672-5123, 01/2019, Volume 19, Issue 1, pp. 128 - 131
AIM: To explore the mutation type of TGFBI gene in a lattice-like corneal dystrophy(LCD)family in northeast China. METHODS: A basic ophthalmologic examination... 
gene mutation | hereditary | lattice-like corneal dystrophy
Journal Article
Journal of Ophthalmology, ISSN 2090-004X, 2019, Volume 2019, pp. 2824179 - 7
Background/Aims. Corneal dystrophies (CDs) belong to a group of hereditary heterogeneous corneal diseases which result in visual impairment due to the... 
MEDICINE, RESEARCH & EXPERIMENTAL | OPHTHALMOLOGY | PROTEIN | SPECTRUM | LATTICE | MOTIF
Journal Article
Journal Article
Biomedical Reports, ISSN 2049-9434, 10/2017, Volume 7, Issue 4, pp. 314 - 318
Lattice corneal dystrophy type I (LCDI) is associated with a large number of missense mutations in the transforming growth factor β induced ( ) gene. The aim... 
Confocal microscopy | R124C mutation | Transforming growth factor β induced | Lattice corneal dystrophy type I
Journal Article
International Journal of Molecular Medicine, ISSN 1107-3756, 11/2013, Volume 32, Issue 5, pp. 1110 - 1114
This study aimed to establish a transgenic mouse model of corneal dystrophy (CD) overexpressing the human transforming growth factor, β-induced, 68 kDa (TGFBI,... 
transgenic mice | corneal dystrophy | BIGH3 | Corneal dystrophy | Transgenic mice | MEDICINE, RESEARCH & EXPERIMENTAL | MOLECULAR-GENETIC ANALYSIS | PROTEIN | IN-VITRO | MUTATION | SEQUENCE | GROWTH | PHOSPHOGLYCERATE KINASE | MICE | LATTICE | EXPRESSION | Cornea | Pathogenesis | Genes | Kinases | Experiments | Studies | E coli | Transgenic animals | Rodents | Phenols | Mutation | Research centers | Deoxyribonucleic acid--DNA
Journal Article
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