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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...

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Bibliografski detalji
Glavni autori: Liang, Chen, Fan, Wei, Wu, Sisi, Liu, Yi
Format: Artigo
Jezik:Inglês
Izdano: Molecular Vision 2011
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3249434/
https://ncbi.nlm.nih.gov/pubmed/22219643
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