Identification of a Novel Missense Mutation in the Sterol 27-Hydroxylase Gene in Two Japanese Patients with Cerebrotendinous Xanthomatosis

Internal Medicine

Volumn 49, Issue 12, 2010, Pages 1127-1131

  Nozue, Tsuyoshi ^a,b   Higashikata, Toshinori ^b,c   Inazu, Akihiro ^b   Kawashiri, Masa aki ^b   Nohara, Atsushi ^b   Kobayashi, Junji ^b   Koizumi, Junji ^d   Yamagishi, Masakazu ^b   Mabuchi, Hiroshi ^b  

^a Yokohama Sakae Kyosai Hospital   (Japan)

^b KANAZAWA UNIVERSITY GRADUATE SCHOOL OF MEDICAL SCIENCE   (Japan)

^c Komatsu Municipal Hospital   (Japan)

^d KANAZAWA UNIVERSITY HOSPITAL   (Japan)

Author keywords

27 hydroxylase; Cerebrotendinous anthomatosis; Cholestanol; Gene mutation; Xanthoma

Indexed keywords

ARGININE; CHOLESTANETRIOL 26 MONOOXYGENASE; CHOLESTEROL; GENOMIC DNA; GLUTAMINE; STEROL 27 HYDROXYLASE;

ACHILLES TENDINITIS; AGED; ARTICLE; CASE REPORT; CEREBELLUM ATROPHY; CEREBELLUM DISEASE; CEREBROTENDINOUS XANTHOMATOSIS; DEMENTIA; EXON; EXTRAPYRAMIDAL SYSTEM; GENE AMPLIFICATION; GENETIC ANALYSIS; GENETIC IDENTIFICATION; HETEROZYGOTE; HUMAN; JAPANESE; MALE; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PYRAMIDAL SIGN; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

AGED; ASIAN CONTINENTAL ANCESTRY GROUP; CYTOCHROME P-450 CYP27A1; HETEROZYGOTE DETECTION; HUMANS; MALE; MUTATION, MISSENSE; XANTHOMATOSIS, CEREBROTENDINOUS;

EID: 77954011213     PISSN: 09182918     EISSN: 13497235     Source Type: Journal    
DOI: 10.2169/internalmedicine.49.3277     Document Type: Article

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