Novel compound heterozygous mutations in CERKL cause autosomal recessive retinitis pigmentosa in a nonconsanguineous Chinese family.
Tang
Zhaohui
Z
Wang
Zhaoxiang
Z
Wang
Zhi
Z
Ke
Tie
T
Wang
Qing Kenneth
QK
Liu
Mugen
M
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
D017853:Phosphotransferases (Alcohol Group Acceptor); C066324:ceramide kinase