Homozygosity Mapping Reveals Null Mutations in FAM161A as a Cause of Autosomal-Recessive Retinitis Pigmentosa

Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal degenerations caused by mutations in at least 45 genes. Using homozygosity mapping, we identified a ∼4 Mb homozygous region on chromosome 2p15 in patients with autosomal-recessive RP (arRP). This region partially overlaps with R...

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Autori principali: Bandah-Rozenfeld, Dikla, Mizrahi-Meissonnier, Liliana, Farhy, Chen, Obolensky, Alexey, Chowers, Itay, Pe'er, Jacob, Merin, Saul, Ben-Yosef, Tamar, Ashery-Padan, Ruth, Banin, Eyal, Sharon, Dror
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2010
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2933343/
https://ncbi.nlm.nih.gov/pubmed/20705279
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2010.07.022
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