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Identification and study of a FBN1 gene mutation in a Chinese family with ectopia lentis
PURPOSE: To identify the mutation in the fibrillin-1 gene (FBN1) in a Chinese family with ectopia lentis (EL) and to predict the structural and functional consequences of the mutation. METHODS: Patients and family members were given complete physical, ophthalmic, and cardiovascular examinations. Gen...
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| Autori principali: | , , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Molecular Vision
2012
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3291523/ https://ncbi.nlm.nih.gov/pubmed/22393277 |
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