@article{oai:nagasaki-u.repo.nii.ac.jp:00001122,
 author = {Sasamura, Akari and Akazawa, Satoru and Haraguchi, Ai and Horie, Ichiro and Ando, Takao and Abiru, Norio and Takei, Hajime and Nittono, Hiroshi and Une, Mizuho and Kurosawa, Takao and Murai, Tsuyoshi and Naruse, Hiromu and Nakayama, Tomohiro and Kotani, Kazuhiko and Remaley, Alan T. and Kawakami, Atsushi},
 issue = {11},
 journal = {Internal Medicine},
 month = {Jun},
 note = {Cerebrotendinous xanthomatosis (CTX) is a rare, autosomal recessive, inborn disruption in bile acid synthesis characterized by severe systemic xanthomas, cataracts and neurological injuries occurring before adolescence without elevation of the serum cholesterol or triglyceride levels. CTX is caused by a deficiency of the mitochondrial enzyme sterol 27-hydroxylase, which is encoded by the CYP27A1 gene. We herein report a 50-year-old Japanese woman with late-onset CTX who had no relevant symptoms before the development of bilateral Achilles tendon xanthomas in middle age. A genetic analysis revealed a compound heterozygous mutation in the CYP27A1 gene with a previously known missense mutation (NM_000784.3:c.1421 G>A) and a novel frame shift mutation of NM_000784.3:c.1342_1343insCACC., Internal Medicine, 57(11), pp.1611-1616; 2018},
 pages = {1611--1616},
 title = {Late-onset Cerebrotendinous Xanthomatosis with a Novel Mutation in the CYP27A1 Gene},
 volume = {57},
 year = {2018}
}