Novel and known mutations of TGFBI, their genotype-phenotype correlation and structural modeling in 3 Chinese families with lattice corneal dystrophy

PURPOSE: To report novel transforming growth factor beta-induced (TGFBI) mutations responsible for lattice corneal dystrophy (LCD), the associated genotype-phenotype correlation, and structural changes in the mutant proteins in three Chinese families. METHODS: Three unrelated Chinese families were d...

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Detalles Bibliográficos
Autores principales: Zhong, Xingwu, Chen, Suqin, Huang, Weijun, Yang, Jun, Chen, Xiaolian, Zhou, Yan, Zhou, Qiang, Wang, Yiming
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2010
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2822555/
https://www.ncbi.nlm.nih.gov/pubmed/20161820

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