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A novel phenotype-genotype correlation with an Arg555Trp mutation of TGFBI gene in Thiel-Behnke corneal dystrophy in a Chinese pedigree
BACKGROUND: To investigate the molecular defects in a four-generation Chinese pedigree affected with Thiel-Behnke corneal dystrophy (TBCD). And to further study the relationship between genetic mutation and clinical manifestations. METHODS: Individuals of the pedigree were recruited for extensive op...
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| Publié dans: | BMC Ophthalmol |
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| Auteurs principaux: | , , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
BioMed Central
2015
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4605025/ https://ncbi.nlm.nih.gov/pubmed/26464103 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12886-015-0121-0 |
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