Detection of Mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 Families With Early-Onset High Myopia by Exome Sequencing
Investigative Ophthalmology & Visual Science2014Vol. 56(1), pp. 339–345
Citations Over TimeTop 10% of 2014 papers
Dan Jiang, Jiali Li, Xueshan Xiao, Shiqiang Li, Xiaoyun Jia, Wenmin Sun, Xiangming Guo, Qingjiong Zhang
Abstract
Our results provide additional evidence to support the idea that mutation in LRPAP1 is associated with high myopia. Further studies are expected to evaluate the pathogenicity of the variants in CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2.
Related Papers
- → The GENCODE exome: sequencing the complete human exome(2011)63 cited
- → Compound heterozygous SLC29A3 mutation causes H syndrome in a Moroccan patient: A case report(2016)14 cited
- → Whole exome sequencing improves mutation detection in Hailey–Hailey disease(2021)3 cited
- → Identification of a novel OXCT1 frameshift mutation by whole-exome sequencing and evidence for nonsense-mediated mRNA decay(2020)
- → [Novel compound heterozygous SCN9A variations causing congenital insensitivity to pain in a patient].(2022)