Mutations in KCNJ13 Cause Autosomal-Dominant Snowflake Vitreoretinal Degeneration

Snowflake vitreoretinal degeneration (SVD, MIM 193230) is a developmental and progressive hereditary eye disorder that affects multiple tissues within the eye. Diagnostic features of SVD include fibrillar degeneration of the vitreous humor, early-onset cataract, minute crystalline deposits in the ne...

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Detalhes bibliográficos
Main Authors: Hejtmancik, J. Fielding, Jiao, Xiaodong, Li, Anren, Sergeev, Yuri V., Ding, Xiaoyan, Sharma, Anil K., Chan, Chi-Chao, Medina, Igor, Edwards, Albert O.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2008
Assuntos:
Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2253967/
https://ncbi.nlm.nih.gov/pubmed/18179896
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2007.08.002
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