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corneal dystrophies, hereditary - genetics (95) 95
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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
Journal Article
Human Mutation, ISSN 1059-7794, 07/2006, Volume 27, Issue 7, pp. 615 - 625
Journal Article
PLoS ONE, ISSN 1932-6203, 07/2015, Volume 10, Issue 7, pp. e0133397 - e0133397
Journal Article
Journal Article
Scientific Reports, ISSN 2045-2322, 03/2016, Volume 6, Issue 1, pp. 23836 - 23836
Journal Article
PROTEOMICS – Clinical Applications, ISSN 1862-8346, 04/2014, Volume 8, Issue 3-4, pp. 168 - 177
Journal Article
Biochemical Journal, ISSN 0264-6021, 05/2017, Volume 474, Issue 10, pp. 1705 - 1725
Corneal stromal dystrophies are a group of genetic disorders that may be caused by mutations in the transforming growth factor beta-induced (TGFBI) gene which... 
GENE-MUTATIONS | INDUCED PROTEIN TGFBIP | GROWTH-FACTOR-BETA | IN-VITRO | FIBRILS | NMR CHEMICAL-SHIFTS | KERATOEPITHELIN | BIOCHEMISTRY & MOLECULAR BIOLOGY | BIGH3 GENE | CELL-ADHESION | AGGREGATION | Cornea - ultrastructure | Up-Regulation | Humans | Transforming Growth Factor beta1 - metabolism | Corneal Dystrophies, Hereditary - genetics | Eye Proteins - chemistry | Amyloidogenic Proteins - chemistry | Amyloid - chemistry | Chromatography, High Pressure Liquid | Transforming Growth Factor beta - chemistry | Amyloid - ultrastructure | Tandem Mass Spectrometry | Transforming Growth Factor beta1 - chemistry | Spectrometry, Mass, Electrospray Ionization | Amyloid - metabolism | Corneal Dystrophies, Hereditary - pathology | Nuclear Magnetic Resonance, Biomolecular | Cornea - cytology | Cornea - pathology | Protein Interaction Domains and Motifs | Eye Proteins - genetics | Protein Stability | Circular Dichroism | Peptide Fragments - genetics | Protein Aggregation, Pathological - genetics | Amyloidogenic Proteins - genetics | Amyloid - genetics | Microscopy, Electron, Transmission | Peptide Fragments - metabolism | Cells, Cultured | Transforming Growth Factor beta1 - genetics | Corneal Dystrophies, Hereditary - metabolism | Cornea - metabolism | Point Mutation | Amyloidogenic Proteins - metabolism | Peptide Fragments - chemistry | Transforming Growth Factor beta - genetics | Eye Proteins - metabolism | Kinetics | Transforming Growth Factor beta - metabolism | Protein Aggregation, Pathological - metabolism | Amino Acid Substitution | Index Medicus | corneal dystrophy | amyloid | amino acid substitution | β-sheet propensity | protein aggregation | TGFBIp
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 1998, Volume 62, Issue 2, pp. 320 - 324
Journal Article
Journal Article