Associated Papers
A novel missense mutation of CRYBA1 in a northern Chinese family with inherited coronary cataract with blue punctate opacities.
Ni SH et al.
European Journal of Ophthalmology, 2022
The identification and characterization of the p.G91 deletion in CRYBA1 in a Chinese family with congenital cataracts.
Li D et al.
Bmc Medical Genetics, 2019
Development and clinical utility of a novel diagnostic nystagmus gene panel using targeted next-generation sequencing.
Thomas MG et al.
European Journal of Human Genetics : Ejhg, 2017
Targeted Genes Sequencing Identified a Novel 15 bp Deletion on GJA8 in a Chinese Family with Autosomal Dominant Congenital Cataracts.
Min HY et al.
Chinese Medical Journal, 2016
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