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Clinical features of a novel TIMP-3 mutation causing Sorsby's fundus dystrophy: implications for disease mechanism
AIMS—To describe the phenotype in three family members affected by a novel mutation in the gene coding for the enzyme tissue inhibitor of metalloproteinase-3 (TIMP-3). METHODS—Three members of the same family were seen with a history of nyctalopia and visual loss due to maculopathy. Clinical feature...
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| Autori principali: | , , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
2001
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1723822/ https://ncbi.nlm.nih.gov/pubmed/11734514 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bjo.85.12.1429 |
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