A Missense Mutation in DHDDS, Encoding Dehydrodolichyl Diphosphate Synthase, Is Associated with Autosomal-Recessive Retinitis Pigmentosa in Ashkenazi Jews

Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal degenerations caused by mutations in at least 50 genes. Using homozygosity mapping in Ashkenazi Jewish (AJ) patients with autosomal-recessive RP (arRP), we identified a shared 1.7 Mb homozygous region on chromosome 1p36.11. Sequ...

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Hlavní autoři: Zelinger, Lina, Banin, Eyal, Obolensky, Alexey, Mizrahi-Meissonnier, Liliana, Beryozkin, Avigail, Bandah-Rozenfeld, Dikla, Frenkel, Shahar, Ben-Yosef, Tamar, Merin, Saul, Schwartz, Sharon B., Cideciyan, Artur V., Jacobson, Samuel G., Sharon, Dror
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2011
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3035703/
https://ncbi.nlm.nih.gov/pubmed/21295282
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2011.01.002
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