Mutations in CERKL and RP1 cause retinitis pigmentosa in Pakistani families
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DOI: 10.1038/s41439-020-0100-8
Abstract: This study was conducted to identify the genetic basis of retinal dystrophies in consanguineous Pakistani families. We recruited two families with retinitis pigmentosa (RP) displaying visual difficulties, including nyctalopia and constricted visual fields. Linkage analysis… read more here.
Keywords: mutations cerkl; retinitis pigmentosa; rp1 cause; cerkl rp1 ... See more keywords