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Keyword [Leber’s congenital amaurosis]
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1. The Tissue Expression Of NMNAT1 And SIRT1 In LCA Mice With Compound Heterozygote With NMNAT1 Mutation And A Novel Frameshift Mutation Of SMN1 Gene Cause Spinal Muscular Atrophy
2. The Application Research Of NIPT For Fetal Chromosomal Abnormalities And Functional Analysis Of GUCY2D Gene Mutations
3. A New Mutation Of LCA5 Gene In A Pedigree With Leber’s Congenital Amaurosis
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