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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Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Hejtmancik, J. Fielding, Jiao, Xiaodong, Li, Anren, Sergeev, Yuri V., Ding, Xiaoyan, Sharma, Anil K., Chan, Chi-Chao, Medina, Igor, Edwards, Albert O.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Elsevier 2008
Gaiak:
Report
Sarrera elektronikoa: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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