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References

These sources were used to develop the Genetics Home Reference gene summary on the TGFBI gene.

Boutboul S, Black GC, Moore JE, Sinton J, Menasche M, Munier FL, Laroche L, Abitbol M, Schorderet DF. A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3. Hum Mutat. 2006 Jun;27(6):553-7. PubMed citation
Clout NJ, Hohenester E. A model of FAS1 domain 4 of the corneal protein beta(ig)-h3 gives a clearer view on corneal dystrophies. Mol Vis. 2003 Sep 11;9:440-8. PubMed citation
Entrez Gene
Kannabiran C, Klintworth GK. TGFBI gene mutations in corneal dystrophies. Hum Mutat. 2006 Jul;27(7):615-25. Review. PubMed citation
Munier FL, Korvatska E, Djemaī A, Le Paslier D, Zografos L, Pescia G, Schorderet DF. Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. Nat Genet. 1997 Mar;15(3):247-51. PubMed citation
OMIM: TRANSFORMING GROWTH FACTOR, BETA-INDUCED, 68-KD
Schmitt-Bernard CF, Chavanieu A, Derancourt J, Arnaud B, Demaille JG, Calas B, Argiles A. In vitro creation of amyloid fibrils from native and Arg124Cys mutated betaIGH3((110-131)) peptides, and its relevance for lattice corneal amyloid dystrophy type I. Biochem Biophys Res Commun. 2000 Jul 5;273(2):649-53. PubMed citation
Yang J, Han X, Huang D, Yu L, Zhu Y, Tong Y, Zhu B, Li C, Weng M, Ma X. Analysis of TGFBI gene mutations in Chinese patients with corneal dystrophies and review of the literature. Mol Vis. 2010 Jun 30;16:1186-93. Review. PubMed citation

Reviewed: April 2012

Published: June 17, 2013