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Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis
PURPOSE: Leber congenital amaurosis (LCA) is one of the most severe inherited retinal dystrophies with the earliest age of onset. Mutations in the Crumbs homologue 1 (CRB1; OMIM 600105) gene explain 10%–24% of cases with LCA depending on the population. The aim of the present work was to study a fet...
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Asıl Yazarlar: | , , , , , , , , , |
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Materyal Türü: | Artigo |
Dil: | Inglês |
Baskı/Yayın Bilgisi: |
Molecular Vision
2008
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Konular: | |
Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2493031/ https://ncbi.nlm.nih.gov/pubmed/18682814 |
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