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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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Autors principals: Sikkink, Stephen K, Biswas, Susmito, Parry, Neil R A, Stanga, Paulo E, Trump, Dorothy
Format: Artigo
Idioma:Inglês
Publicat: BMJ Group 2007
Matèries:
Accés en línia: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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