Identification of a 2 Mb Human Ortholog of Drosophila eyes shut/spacemaker that Is Mutated in Patients with Retinitis Pigmentosa

In patients with autosomal-recessive retinitis pigmentosa (arRP), homozygosity mapping was performed for detection of regions harboring genes that might be causative for RP. In one affected sib pair, a shared homozygous region of 5.0 Mb was identified on chromosome 6, within the RP25 locus. One of t...

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Main Authors: Collin, Rob W.J., Littink, Karin W., Klevering, B. Jeroen, van den Born, L. Ingeborgh, Koenekoop, Robert K., Zonneveld, Marijke N., Blokland, Ellen A.W., Strom, Tim M., Hoyng, Carel B., den Hollander, Anneke I., Cremers, Frans P.M.
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2008
Fag:
Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2668042/
https://ncbi.nlm.nih.gov/pubmed/18976725
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2008.10.014
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