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Novel mutation in FBN1 causes ectopia lentis and varicose great saphenous vein in one Chinese autosomal dominant family
PURPOSE: To identify genetic defects in a Chinese family with ectopia lentis (EL) and varicose great saphenous vein (GSV) and to analyze the correlations between phenotype and genotype. METHODS: Twenty-two (12 affected subjects and ten unaffected subjects) among 53 members of a Chinese family underw...
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| Auteurs principaux: | , , , , , , , , , |
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| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Molecular Vision
2014
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4057249/ https://ncbi.nlm.nih.gov/pubmed/24940037 |
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