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X‐linked retinoschisis: an update

X‐linked retinoschisis is the leading cause of macular degeneration in males and leads to splitting within the inner retinal layers leading to visual deterioration. Many missense and protein truncating mutations have now been identified in the causative retinoschisis gene (RS1) which encodes a 224 a...

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Hlavní autoři: Sikkink, Stephen K, Biswas, Susmito, Parry, Neil R A, Stanga, Paulo E, Trump, Dorothy
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Group 2007
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2598044/
https://ncbi.nlm.nih.gov/pubmed/17172462
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2006.047340
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