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A novel FBN1 mutation in a Chinese family with isolated ectopia lentis
PURPOSE: To identify the genetic defect in an autosomal dominant isolated ectopia lentis (EL) family. METHODS: Detailed family history and clinical data were collected from the family including sixteen patients with isolated EL. Blood samples of nine patients, one normal person and two unknown child...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Molecular Vision
2012
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3335778/ https://www.ncbi.nlm.nih.gov/pubmed/22539873 |