Abstract:
:This report concerns two new mutations in the sterol 27-hydroxylase gene in two patients with cerebrotendinous xanthomatosis (CTX). In a Surinam-Creole patient (patient A), a G deletion on position cDNA 546/547 in exon 3 led to a frameshift and the introduction of a premature termination codon. In a Dutch patient (patient B), a C-->T transition at position 496 in exon 3 also led to a premature termination codon. Patient A was homozygous for the mutation, whereas patient B was compound heterozygous, a C-->T transition also being found in exon 6 at position 1204. The two new mutations were confirmed by restriction analysis with the restriction enzymes FokI and MaeI, respectively.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Verrips A,Steenbergen-Spanjers GC,Luyten JA,van den Heuvel LP,Keyser A,Gabreëls FJ,Wevers RAdoi
10.1007/s004390050294subject
Has Abstractpub_date
1996-12-01 00:00:00pages
735-7issue
6eissn
0340-6717issn
1432-1203journal_volume
98pub_type
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