Associated Papers
Cathepsin H deficiency leads to myopic phenotype in mice.
Mou H et al.
Experimental Eye Research, 2025
Arab founder variants: Contributions to clinical genomics and precision medicine.
AlAbdi L et al.
Med (new York, N.y.), 2025
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM17_ESM.xlsx › Sheet1
Inherited diseases caused by mutations in cathepsin protease genes.
Ketterer S et al.
The Febs Journal, 2017
Mutational screening of SLC39A5, LEPREL1 and LRPAP1 in a cohort of 187 high myopia patients.
Feng CY et al.
Scientific Reports, 2017
Mutations in LRPAP1 are associated with severe myopia in humans.
Aldahmesh MA et al.
American Journal of Human Genetics, 2013
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