Four novel mutations of sterol 27-hydroxylase gene in Italian patients with cerebrotendinous xanthomatosis.

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Article

Four novel mutations of sterol 27-hydroxylase gene in Italian patients with cerebrotendinous xanthomatosis.

Journal of lipid research - 1 Nov 1997

Garuti R, Croce M A, Tiozzo R, Dotti M T, Federico A, Bertolini S, Calandra S

Abstract excerpt

We report the characterization of eight mutations of sterol 27-hydroxylase gene (CYP27) in five Italian patients with cerebrotendinous xanthomatosis, who were found to be compound heterozygotes. Four mutations (C --> T at nt 45 of exon 4, G(+1) --> A in intron 6, G(+5) --> T in intron 7, and G(-1...

Topics

Adult
Blotting, Northern
Blotting, Southern
Cholestanetriol 26-Monooxygenase
Cytochrome P-450 Enzyme System
DNA Mutational Analysis
Female
Fibroblasts
Heterozygote
Humans
Italy
Male
Middle Aged
Mutation
Polymerase Chain Reaction
Protein Biosynthesis
RNA Splicing
RNA, Messenger

Source

Open in PubMed

Identifiers

PMID: 9392430

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9392430-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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