Associated Papers
Novel mutations in PDE6A and CDHR1 cause retinitis pigmentosa in Pakistani families.
Dawood M et al.
International Journal of Ophthalmology, 2021
Longitudinal Clinical Follow-up and Genetic Spectrum of Patients With Rod-Cone Dystrophy Associated With Mutations in PDE6A and PDE6B.
Khateb S et al.
Jama Ophthalmology, 2019
Mutations in phosphodiesterase 6 identified in familial cases of retinitis pigmentosa.
Ullah I et al.
Human Genome Variation, 2016
27917291 (PubMed )
Supplement: hgv201636-s1.pdf
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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