Compound Homozygous Rare Mutations in PLCE1 and HPS1 Genes Associated with Autosomal Recessive Retinitis Pigmentosa in Pakistani Families
Background: Retinitis pigmentosa (RP) belongs to pigmentary retinopathies, a generic name for all retinal dystrophies with a major phenotypical and genotypical variation, characterized by progressive reduction of photoreceptor functionality of the rod and cone. Global prevalence of RP is ~ 1/4000 an...
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| Main Authors: | , , , , , , , , , , |
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| Format: | Book |
| Published: |
Tehran University of Medical Sciences,
2022-09-01T00:00:00Z.
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