X-linked retinoschisis: clinical phenotype and RS1 genotype in 86 UK patients

Background: Inactivating mutations of the gene RS1 lead to X-linked retinoschisis, a progressive retinal dystrophy characterised by schisis within the inner layers of the neuroretina. The mutation spectrum is large and the phenotype variable. Aim: To determine whether there is a correlation between...

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Detaylı Bibliyografya
Asıl Yazarlar: Pimenides, D, George, N, Yates, J, Bradshaw, K, Roberts, S, Moore, A, Trump, D
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BMJ Group 2005
Konular:
Electronic Letter
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC1736077/
https://ncbi.nlm.nih.gov/pubmed/15937075
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2004.029769
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