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kerato-epithelin mutations (92) 92
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British Journal of Ophthalmology, ISSN 0007-1161, 10/2011, Volume 95, Issue 10, pp. 1457 - 1462
Journal Article
Human Mutation, ISSN 1059-7794, 06/2019, Volume 40, Issue 6, pp. 675 - 693
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Journal Article
Journal Article
Journal Article
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 2002, Volume 43, Issue 3, pp. 656 - 661
PURPOSE. betaIG-H3 is a TGF-beta-induced cell adhesion molecule, the mutations of which are responsible for a group of 5q31-linked corneal dystrophies. The... 
SEQUENCE-ANALYSIS | GROWTH-FACTOR-BETA | GENE | CLONING | KERATO-EPITHELIN MUTATIONS | OPHTHALMOLOGY | 5Q31-LINKED CORNEAL DYSTROPHIES | DOMAINS | CELL-LINE
Journal Article
Experimental Eye Research, ISSN 0014-4835, 03/2012, Volume 96, Issue 1, pp. 163 - 170
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 1998, Volume 62, Issue 2, pp. 320 - 324
Journal Article
Structure, ISSN 0969-2126, 11/2017, Volume 25, Issue 11, pp. 1740 - 1750.e2
A major cause of visual impairment, corneal dystrophies result from accumulation of protein deposits in the cornea. One of the proteins involved is... 
extracellular matrix protein | cysteine-rich CROPT domain | multi-domain protein | pathological mutants | crystal structure | corneal dystrophy | fasciclin FAS1 domain | GENOTYPE-PHENOTYPE CORRELATIONS | KERATO-EPITHELIN MUTATIONS | BIOCHEMISTRY & MOLECULAR BIOLOGY | AMYLOID DEPOSITS | STRUCTURE ALIGNMENT | CELL BIOLOGY | BIOPHYSICS | STRUCTURE VALIDATION | MACROMOLECULAR CRYSTALLOGRAPHY | CHINESE PATIENTS | BIGH3 GENE-MUTATIONS | STRUCTURE PREDICTION | GRANULAR DYSTROPHY | Protein Aggregates | Humans | Integrins - chemistry | Corneal Dystrophies, Hereditary - genetics | Integrins - genetics | Crystallography, X-Ray | Transforming Growth Factor beta - chemistry | Integrins - metabolism | Corneal Dystrophies, Hereditary - pathology | Cloning, Molecular | HEK293 Cells | Protein Interaction Domains and Motifs | Binding Sites | Protein Aggregation, Pathological - genetics | Extracellular Matrix Proteins - metabolism | Recombinant Proteins - metabolism | Amino Acid Sequence | Protein Conformation, alpha-Helical | Extracellular Matrix Proteins - chemistry | Gene Expression | Genetic Vectors - chemistry | Extracellular Matrix Proteins - genetics | Genetic Vectors - metabolism | Models, Molecular | Recombinant Proteins - chemistry | Recombinant Proteins - genetics | Corneal Dystrophies, Hereditary - metabolism | Sequence Homology, Amino Acid | Sequence Alignment | Transforming Growth Factor beta - genetics | Protein Conformation, beta-Strand | Protein Binding | Mutation | Transforming Growth Factor beta - metabolism | Protein Aggregation, Pathological - metabolism | Index Medicus
Journal Article