Disruption of the Basal Body Protein POC1B Results in Autosomal-Recessive Cone-Rod Dystrophy

Exome sequencing revealed a homozygous missense mutation (c.317C>G [p.Arg106Pro]) in POC1B, encoding POC1 centriolar protein B, in three siblings with autosomal-recessive cone dystrophy or cone-rod dystrophy and compound-heterozygous POC1B mutations (c.199_201del [p.Gln67del] and c.810+1G>T) i...

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Autors principals: Roosing, Susanne, Lamers, Ideke J.C., de Vrieze, Erik, van den Born, L. Ingeborgh, Lambertus, Stanley, Arts, Heleen H., Peters, Theo A., Hoyng, Carel B., Kremer, Hannie, Hetterschijt, Lisette, Letteboer, Stef J.F., van Wijk, Erwin, Roepman, Ronald, den Hollander, Anneke I., Cremers, Frans P.M.
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2014
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4129401/
https://ncbi.nlm.nih.gov/pubmed/25018096
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2014.06.012
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