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Article

Exome sequencing identified null mutations in LOXL3 associated with early-onset high myopia.

Molecular vision - 1 Jan 2016

Li Jiali, Gao Bei, Xiao Xueshan, Li Shiqiang, Jia Xiaoyun, Sun Wenmin, Guo Xiangming, Zhang Qingjiong

Abstract excerpt

PURPOSE: To identify null mutations in novel genes associated with early-onset high myopia using whole exome sequencing. METHODS: Null mutations, including homozygous and compound heterozygous truncations, were selected from whole exome sequencing data for 298 probands with early-onset high myopia. These data were compared with those of 507 probands with other forms of eye diseases. Null mutations specific to...

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Identifiers

PMID: 26957899
PMCID: PMC4764606

Genes

LOXL3

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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