Associated Papers
A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023.
Munir A et al.
Bmc Ophthalmology, 2024
Novel Variant IMPDH1 c.134A>G, p.(Tyr45Cys): Phenotype-Genotype Correlation Revealed Likely Benign Clinical Significance.
Bjeloš M et al.
International Journal of Molecular Sciences, 2023
Pseudogenes and their composers: delving in the 'debris' of human genome.
Sen K et al.
Briefings in Functional Genomics, 2013
Genome-wide identification of pseudogenes capable of disease-causing gene conversion.
Bischof JM et al.
Human Mutation, 2006
Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis.
Bowne SJ et al.
Investigative Ophthalmology & Visual Science, 2006
Identification of the genetic determinants responsible for retinal degeneration in families of Mexican descent.
Villanueva A et al.
Ophthalmic Genetics, 0
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