Segev H, Reshef A, Clavey V, Delbart C, Routier G, Leitersdorf E
Division of Medicine, Hadassah University Hospital, Jerusalem, Israel.
Hum Genet. 1995 Feb;95(2):238-40. doi: 10.1007/BF00209413.
Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid-storage disease caused by mutations in the sterol 27-hydroxylase gene (CYP27). So far several mutations causing CTX have been identified and characterized. A new mutation creating an insertion of cytosine at position 6 in the cDNA, which is expected to result in a frameshift and a premature termination codon at codon 179, has been identified in a French family. The mutation creates a new site for the restriction endonuclease HaeIII.
脑腱黄瘤病（CTX）是一种常染色体隐性脂质贮积病，由固醇27 - 羟化酶基因（CYP27）突变引起。到目前为止，已鉴定并表征了几种导致CTX的突变。在一个法国家庭中发现了一种新的突变，该突变在cDNA的第6位导致胞嘧啶插入，预计这将导致移码并在第179密码子处产生提前终止密码子。该突变产生了一个新的限制性内切酶HaeIII位点。
