Figure 1From: A novel mutation in the sterol 27-hydroxylase gene of a woman with autosomal recessive cerebrotendinous xanthomatosisPartial nucleotide sequence of exon 8 in proband D.R. and in a control subject (C.). Patient is heterozygous for a 4 nucleotides deletion (boxed) (c.1330-1333delTTCC). This deletion causes a shift in the reading frame resulting in a string of five novel amino acids (in italics) and the occurrence of a premature stop codon.Back to article page