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TGFBI gene mutation analysis in a Chinese pedigree of Reis-Bücklers corneal dystrophy
PURPOSE: To analyze transforming growth factor beta-induced (TGFBI) gene mutations in a Chinese pedigree with Reis-Bücklers dystrophy (RBCD). METHODS: In a four-generation Chinese family with Reis-Bücklers dystrophy, six members were patients and the rest were unaffected. All members of the family u...
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| Autori principali: | , , , , , , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Molecular Vision
2010
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2847680/ https://ncbi.nlm.nih.gov/pubmed/20360992 |
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