Associated Papers
Cathepsin B p.Gly284Val Variant in Parkinson's Disease Pathogenesis.
Milanowski LM et al.
International Journal of Molecular Sciences, 2022
35806091 (PubMed )
Supplement: ijms-23-07086-s001.zip › Supplementary_Table_S1.xlsx › Heterozygotes
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases.
Maggi J et al.
International Journal of Molecular Sciences, 2021
33546218 (PubMed )
Supplement: ijms-22-01508-s001.zip › Supplementary_Files › Supplementary_Table_S1_Candidate_variants_undiagnosed_cases.xlsx › Supplementary_table_2
Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.
Diñeiro M et al.
Acta Ophthalmologica, 2020
32483926 (PubMed )
Supplement: AOS-98-e1034-s012.xlsx › Table_S12
MERTK mutation update in inherited retinal diseases.
Audo I et al.
Human Mutation, 2018
A Comprehensive Review of Mutations in the MERTK Proto-Oncogene.
Parinot C et al.
Advances in Experimental Medicine and Biology, 2016
Nonsense mutation in MERTK causes autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family.
Shahzadi A et al.
The British Journal of Ophthalmology, 2010
Structural insights into the inhibited states of the Mer receptor tyrosine kinase.
Huang X et al.
Journal of Structural Biology, 2009
Novel splice donor site mutation in MERTK gene associated with retinitis pigmentosa.
Brea-Fernández AJ et al.
The British Journal of Ophthalmology, 2008
MERTK arginine-844-cysteine in a patient with severe rod-cone dystrophy: loss of mutant protein function in transfected cells.
McHenry CL et al.
Investigative Ophthalmology & Visual Science, 2004
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