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Article

Molecular genetics of cerebrotendinous xanthomatosis in Jews of north African origin.

Journal of lipid research - 1 Mar 1994

Reshef A, Meiner V, Berginer V M, Leitersdorf E

Abstract excerpt

Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive sterol storage disease characterized by the accumulation of a bile alcohol, cholestanol, in diverse tissues. The disorder is manifested by extensive nervous system involvement, juvenile cataracts, tendon xanthomas, and premature atherosclerosis and is caused by sterol 27-hydroxylase (EC 1.14.13.15) mutations. Recently, two mutations were shown to...

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PMID: 8014582

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Molecular genetics of cerebrotendinous xanthomatosis in Jews of north African origin.PMID 8014582Read ↗

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