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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...

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Autors principals: Yang, Guoxing, Chu, Meifang, Zhai, Xinling, Zhao, Jialiang
Format: Artigo
Idioma:Inglês
Publicat: Molecular Vision 2012
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3335778/
https://ncbi.nlm.nih.gov/pubmed/22539873
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