Bietti Crystalline Corneoretinal Dystrophy Is Caused by Mutations in the Novel Gene CYP4V2

Bietti crystalline corneoretinal dystrophy (BCD) is an autosomal recessive retinal dystrophy characterized by multiple glistening intraretinal crystals scattered over the fundus, a characteristic degeneration of the retina, and sclerosis of the choroidal vessels, ultimately resulting in progressive...

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Bibliografische gegevens
Hoofdauteurs: Li, Anren, Jiao, Xiaodong, Munier, Francis L., Schorderet, Daniel F., Yao, Wenliang, Iwata, Fumino, Hayakawa, Mutsuko, Kanai, Atsushi, Shy Chen, Muh, Alan Lewis, Richard, Heckenlively, John, Weleber, Richard G., Traboulsi, Elias I., Zhang, Qingjiong, Xiao, Xueshan, Kaiser-Kupfer, Muriel, Sergeev, Yuri V., Hejtmancik, J. Fielding
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: The American Society of Human Genetics 2004
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1181977/
https://ncbi.nlm.nih.gov/pubmed/15042513
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