Abstract
CERKL encodes ceramide kinase-like protein, and mutations in this gene are associated with autosomal recessive cone-rod dystrophy [1–7]. Biallelic CERKL mutations cause up to 5% of recessive retinitis pigmentosa in Spain and are also common in the Yemenite Jewish population [2, 3, 5].
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References
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Zahid, S. et al. (2018). CERKL . In: Retinal Dystrophy Gene Atlas. Springer, Cham. https://doi.org/10.1007/978-3-319-10867-4_16
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DOI: https://doi.org/10.1007/978-3-319-10867-4_16
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