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Novel mutations in CRYBB1/CRYBB2 identified by targeted exome sequencing in Chinese families with congenital cataract

AIM: To summarize the phenotypes and identify the underlying genetic cause of the CRYBB1 and CRYBB2 gene responsible for congenital cataract in two Chinese families. METHODS: Detailed family histories and clinical data were collected from patients during an ophthalmologic examination. Of 523 inherit...

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Enregistré dans:
Détails bibliographiques
Publié dans:Int J Ophthalmol
Auteurs principaux: Chen, Peng, Chen, Hao, Pan, Xiao-Jing, Tang, Su-Zhen, Xia, Yu-Jun, Zhang, Hui
Format: Artigo
Langue:Inglês
Publié: International Journal of Ophthalmology Press 2018
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6192965/
https://ncbi.nlm.nih.gov/pubmed/30364188
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.18240/ijo.2018.10.01
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