共 50 条
- [23] A novel frameshift mutation in the sterol 27-hydroxylase gene in an Egyptian family with cerebrotendinous xanthomatosis without cataract Metabolic Brain Disease, 2017, 32 : 311 - 315
- [27] Genetic analysis of a Japanese cerebrotendinous xanthomatosis family: Identification of a novel mutation in the adrenodoxin binding region of the CYP 27 gene BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 1996, 1317 (02): : 119 - 126
- [30] 2 Novel deletions of the sterol 27-hydroxylase gene in a Chinese Family with Cerebrotendinous Xanthomatosis BMC NEUROLOGY, 2011, 11