Associated Papers
Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy.
Bodenbender JP et al.
International Journal of Molecular Sciences, 2023
36769033 (PubMed )
Supplement: ijms-24-02709-s001.zip › Supplementary_Table_S1.pdf
Distinct mutations with different inheritance mode caused similar retinal dystrophies in one family: a demonstration of the importance of genetic annotations in complicated pedigrees.
Chen X et al.
Journal of Translational Medicine, 2018
Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases.
Ullah I et al.
Molecular Vision, 2016
TULP1 mutations causing early-onset retinal degeneration: preserved but insensitive macular cones.
Jacobson SG et al.
Investigative Ophthalmology & Visual Science, 2014
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.
Wang X et al.
Journal of Medical Genetics, 2013
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