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Corneal amyloidosis caused by Leu518Pro mutation of βig-h3 gene
AIM—To report a Japanese family diagnosed clinically as having lattice corneal dystrophy type I (LCDI) in which a Leu518Pro mutation in the βig-h3 gene and not the R124C mutation reported previously was found. METHODS—Molecular genetic analysis was performed on DNA extracted from peripheral leucocyt...
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| Main Authors: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2000
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1723504/ https://ncbi.nlm.nih.gov/pubmed/10837380 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bjo.84.6.583 |
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