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Reduced penetrance in familial Avellino corneal dystrophy associated with TGFBI mutations
PURPOSE: To characterize the clinical phenotype, histopathological features, and molecular genetic basis of an Avellino corneal dystrophy (ACD) in a Chinese family. METHODS: A complete ophthalmologic examination was performed in 21 individuals (6 affected and 15 unaffected) of the four-generation fa...
Sparad:
| Huvudupphovsmän: | , , , , , , |
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| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
Molecular Vision
2009
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| Ämnen: | |
| Länkar: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2622714/ https://ncbi.nlm.nih.gov/pubmed/19145249 |
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