title: Novel compound heterozygous mutations in CERKL cause autosomal recessive retinitis pigmentosa in a nonconsanguineous Chinese family.
authors: Zhaohui
authors: Z
authors: Tang
authors: Zhaoxiang
authors: Z
authors: Wang
authors: Zhi
authors: Z
authors: Wang
authors: Tie
authors: T
authors: Ke
authors: Qing Kenneth
authors: QK
authors: Wang
authors: Mugen
authors: M
authors: Liu
mesh_terms: D000293:Adolescent; D044466:Asian People / Q000235:genetics; D003241:Consanguinity; D005091:Exons / Q000235:genetics; D005808:Genes, Recessive; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012174:Retinitis Pigmentosa / Q000235:genetics*; D055815:Young Adult
chemical_list: D017853:Phosphotransferases (Alcohol Group Acceptor); C066324:ceramide kinase