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An Arg124His mutation in TGFBI associated to Avellino corneal dystrophy in a Chinese pedigree
PURPOSE: To identify the gene mutation underlying Avellino corneal dystrophy in a four-generation Chinese pedigree. METHODS: Patients from the affected family underwent detailed clinical examination involving slit-lamp photography and confocal microscopy. Genomic DNA extracted from peripheral leukoc...
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| Formato: | Artigo |
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| Idioma: | en |
| Publicado em: |
Molecular Vision
2011
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3244477/ https://ncbi.nlm.nih.gov/pubmed/22194646 |
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