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403 related items for PubMed ID: 19948560

  • 1. TGFBI mutational analysis in a New Zealand population of inherited corneal dystrophy patients.
    Vincent AL, de Karolyi B, Patel DV, Wheeldon CE, McGhee CN.
    Br J Ophthalmol; 2010 Jul; 94(7):836-42. PubMed ID: 19948560
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  • 2. A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophy.
    Stewart H, Black GC, Donnai D, Bonshek RE, McCarthy J, Morgan S, Dixon MJ, Ridgway AA.
    Ophthalmology; 1999 May; 106(5):964-70. PubMed ID: 10328397
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  • 6. [A research on TGFBI gene mutations in Chinese families with corneal dystrophies].
    Qi YH, He HD, Li Y, Lin H, Gu JZ, Su H, Huang SZ.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2006 Jun; 23(3):310-2. PubMed ID: 16767671
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  • 12. TGFBI gene mutations causing lattice and granular corneal dystrophies in Indian patients.
    Chakravarthi SV, Kannabiran C, Sridhar MS, Vemuganti GK.
    Invest Ophthalmol Vis Sci; 2005 Jan; 46(1):121-5. PubMed ID: 15623763
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  • 13. Expanding the mutational spectrum in TGFBI-linked corneal dystrophies: Identification of a novel and unusual mutation (Val113Ile) in a family with granular dystrophy.
    Zenteno JC, Ramirez-Miranda A, Santacruz-Valdes C, Suarez-Sanchez R.
    Mol Vis; 2006 Apr 10; 12():331-5. PubMed ID: 16636649
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  • 14. A corneal dystrophy associated with transforming growth factor beta-induced Gly623Asp mutation an amyloidogenic phenotype.
    Auw-Haedrich C, Agostini H, Clausen I, Reinhard T, Eberwein P, Schorderet DF, Gruenauer-Kloevekorn C.
    Ophthalmology; 2009 Jan 10; 116(1):46-51. PubMed ID: 19019446
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  • 16. A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3.
    Boutboul S, Black GC, Moore JE, Sinton J, Menasche M, Munier FL, Laroche L, Abitbol M, Schorderet DF.
    Hum Mutat; 2006 Jun 10; 27(6):553-7. PubMed ID: 16652336
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  • 19. TGFBI gene mutation analysis in families with hereditary corneal dystrophies from Ukraine.
    Pampukha VM, Drozhyna GI, Livshits LA.
    Ophthalmologica; 2004 Jun 10; 218(6):411-4. PubMed ID: 15564760
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