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A splice-site variant in the lncRNA gene RP1-140A9.1 cosegregates in the large Volkmann cataract family
PURPOSE: To identify the mutation for Volkmann cataract (CTRCT8) at 1p36.33. METHODS: The genes in the candidate region 1p36.33 were Sanger and parallel deep sequenced, and informative single nucleotide polymorphisms (SNPs) were identified for linkage analysis. Expression analysis with reverse trans...
Autores principales: | Eiberg, Hans, Mikkelsen, Annemette F., Bak, Mads, Tommerup, Niels, Lund, Allan M., Wenzel, Anne, Sabarinathan, Radhakrishnan, Gorodkin, Jan, Bang-Berthelsen, Claus H., Hansen, Lars |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Molecular Vision
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377377/ https://www.ncbi.nlm.nih.gov/pubmed/30820140 |
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