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...

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Detalles Bibliográficos
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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377377/
https://www.ncbi.nlm.nih.gov/pubmed/30820140

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377377/
https://www.ncbi.nlm.nih.gov/pubmed/30820140

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