Mutation of the sterol 27-hydroxylase gene (CYP27) results in truncation of mRNA expressed in leucocytes in a Japanese family with cerebrotendinous xanthomatosis

Journal of Neurology Neurosurgery and Psychiatry

Volumn 67, Issue 5, 1999, Pages 675-677

  Shiga, K ^a   Fukuyama, R ^a   Kimura, S ^b,c   Nakajima, K ^a   Fushiki, S ^a,b  

^a Department of Dynamic Pathology ^*

^b KYOTO PREFECTURAL UNIVERSITY OF MEDICINE   (Japan)

^c Sonobe Tan ikai Hospital   (Japan)

Author keywords

Cerebrotendinous xanthomatosis; CYP27; Leucocyte; Phenotypic heterogeneity

Indexed keywords

MESSENGER RNA; STEROID 17ALPHA MONOOXYGENASE;

ADULT; ARTICLE; CASE REPORT; CEREBROTENDINOUS XANTHOMATOSIS; FAMILY STUDY; GENE MUTATION; HOMOZYGOTE; HUMAN; INTRON; LEUKOCYTE; MALE; PRIORITY JOURNAL; SIBLING;

EID: 0032850803     PISSN: 00223050     EISSN: None     Source Type: Journal    
DOI: 10.1136/jnnp.67.5.675     Document Type: Article

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