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Identification of a novel FBN1 mutation in a Chinese family with isolated ectopia lentis

PURPOSE: To identify the genetic defect in a Chinese family with autosomal dominant inherited ectopia lentis. METHODS: twenty-one family members, including seven patients underwent general physical and fully ophthalmic examinations. Genomic DNA was extracted from leukocytes of venous blood of these...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: Liang, Chen, Fan, Wei, Wu, Sisi, Liu, Yi
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Molecular Vision 2011
विषय:
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC3249434/
https://ncbi.nlm.nih.gov/pubmed/22219643
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