Associated Papers
IMPDH1-associated autosomal dominant retinitis pigmentosa: natural history of novel variant Lys314Gln and a comprehensive literature search.
Sakti DH et al.
Ophthalmic Genetics, 2023
37259572 (PubMed )
Supplement: supplement_1.pdf
Applying next generation sequencing with microdroplet PCR to determine the disease-causing mutations in retinal dystrophies.
Wang X et al.
Bmc Ophthalmology, 2017
Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing.
Xu Y et al.
Human Genetics, 2014
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