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Identification of novel CYP4V2 gene mutations in 92 Chinese families with Bietti’s crystalline corneoretinal dystrophy

PURPOSE: To characterize the spectrum of CYP4V2 gene mutations in 92 unrelated Chinese probands with Bietti’s crystalline dystrophy (BCD) and to describe the molecular and clinical characteristics of four novel CYP4V2 mutations associated with BCD. METHODS: All study participants underwent a complet...

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Dettagli Bibliografici
Pubblicato in:Mol Vis
Autori principali: Meng, Xiao Hong, Guo, Hong, Xu, Hai Wei, Li, Qi You, Jin, Xin, Bai, Yun, Li, Shi Ying, Yin, Zheng Qin
Natura: Artigo
Lingua:Inglês
Pubblicazione: Molecular Vision 2014
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4287718/
https://ncbi.nlm.nih.gov/pubmed/25593508
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