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Extremely varied phenotypes in granular corneal dystrophy type 2 heterozygotes

PURPOSE: To investigate the phenotypic variability of patients bearing the heterozygous R124H mutation in the TGFBI (transforming growth factor-beta-induced) gene that causes granular corneal dystrophy type 2 (GCD2). METHODS: We describe the phenotypic range of GCD2 heterozygotes for the common R124...

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Detalles Bibliográficos
Autores principales:	Han, Kyung Eun, Choi, Seung-il, Chung, Woo Suk, Jung, Se Hwan, Katsanis, Nicholas, Kim, Tae-im, Kim, Eung Kweon
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Molecular Vision 2012
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3398492/ https://www.ncbi.nlm.nih.gov/pubmed/22815629

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