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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Autores principales: 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
Formato: Artigo
Lenguaje:Inglês
Publicado: The American Society of Human Genetics 2004
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Articles
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1181977/
https://ncbi.nlm.nih.gov/pubmed/15042513
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