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adolescent (23) 23
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amyloid - metabolism (21) 21
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eye diseases (21) 21
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penetrating keratoplasty (19) 19
tgfbi gene (19) 19
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familial amyloidosis (18) 18
phototherapeutic keratectomy (18) 18
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gelsolin - genetics (16) 16
mutation, missense (16) 16
corneal stroma - pathology (15) 15
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genetic aspects (15) 15
hereditary amyloidosis (15) 15
visual acuity (15) 15
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corneal dystrophies, hereditary - complications (14) 14
dystrophy (14) 14
genetics & heredity (14) 14
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mutation - genetics (14) 14
avellino corneal dystrophy (13) 13
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Scientific Reports, ISSN 2045-2322, 03/2016, Volume 6, Issue 1, pp. 23836 - 23836
Journal Article
Cornea, ISSN 0277-3740, 10/2011, Volume 30, Issue 10, pp. 1163 - 1166
Journal Article
PROTEOMICS, ISSN 1615-9853, 02/2016, Volume 16, Issue 3, pp. 539 - 543
More than 60 mutations in transforming growth factor beta‐induced protein (TGFBIp) have been reported in humans causing a variety of phenotypic protein... 
2DE immunoblotting | Cornea | Biomedicine | Granular corneal dystrophy type 2 | TGFBIp | XIC label‐free quantification | XIC label-free quantification | DEPOSITS | GENE | BIOCHEMISTRY & MOLECULAR BIOLOGY | BIOCHEMICAL RESEARCH METHODS | MUTATIONS | LATTICE | Cornea - surgery | Proteome - genetics | Molecular Weight | Humans | Protein Multimerization | Corneal Dystrophies, Hereditary - genetics | Male | Case-Control Studies | Tandem Mass Spectrometry | Corneal Dystrophies, Hereditary - pathology | Protein Aggregation, Pathological - pathology | Proteolysis | Chromatography, Liquid | Adult | Female | Cornea - pathology | Protein Aggregation, Pathological - genetics | Extracellular Matrix Proteins - metabolism | Protein Aggregation, Pathological - etiology | Gene Expression | Extracellular Matrix Proteins - genetics | Molecular Sequence Annotation | Corneal Dystrophies, Hereditary - metabolism | Cornea - metabolism | Homozygote | Transforming Growth Factor beta - genetics | Keratomileusis, Laser In Situ - adverse effects | Corneal Dystrophies, Hereditary - surgery | Mutation | Proteome - metabolism | Transforming Growth Factor beta - metabolism | Protein Aggregation, Pathological - metabolism | Eye | Proteins | Arginine | Surgery | Growth factors | Molecular weight | Transforming growth factor-b | Immunoblotting | Patients | Accumulation | Amino acid substitution | Histidine | Aggregates | Corneal dystrophy | Extracellular matrix | Dystrophy | Index Medicus
Journal Article
Cornea, ISSN 0277-3740, 12/2007, Volume 26, Issue 10, pp. 1182 - 1183
Journal Article
Eye, ISSN 0950-222X, 2007, Volume 21, Issue 5, pp. 587 - 590
Journal Article
国际眼科杂志:英文版, ISSN 2222-3959, 2013, Volume 6, Issue 4, pp. 458 - 462
AIM:To investigate the clinical features and genetic defects in four generations of a Chinese family affected with atypical granular corneal dystrophy type... 
mutation | TGFBI | atypical | gene | granularcornealdystrophy | Atypical | Granular corneal dystrophy | Gene mutation | PROTEIN | BETA-IG-H3 | gene mutation | PHENOTYPE | OPHTHALMOLOGY | granular corneal dystrophy | CDNA | BIGH3 GENE-MUTATIONS | LATTICE
Journal Article
Journal Article
Eye & Contact Lens: Science & Clinical Practice, ISSN 1542-2321, 09/2009, Volume 35, Issue 5, pp. 272 - 274
Journal Article