Yüklüyor......

Characterization of novel RS1 exonic deletions in juvenile X-linked retinoschisis

PURPOSE: X-linked juvenile retinoschisis (XLRS) is a vitreoretinal dystrophy characterized by schisis (splitting) of the inner layers of the neuroretina. Mutations within the retinoschisis (RS1) gene are responsible for this disease. The mutation spectrum consists of amino acid substitutions, splice...

Ful tanımlama

Kaydedildi:
Detaylı Bibliyografya
Asıl Yazarlar: D’Souza, Leera, Cukras, Catherine, Antolik, Christian, Craig, Candice, Lee, Ji-Yun, He, Hong, Li, Shibo, Smaoui, Nizar, Hejtmancik, James F., Sieving, Paul A., Wang, Xinjing
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Molecular Vision 2013
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC3820431/
https://ncbi.nlm.nih.gov/pubmed/24227916
Etiketler: Etiketle
Etiket eklenmemiş, İlk siz ekleyin!