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. 2006 Oct 27;28(3):255–264. doi: 10.1002/humu.20430

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PUBLISHED 2006 WILEY-LISS, INC.

Re-use of this article is permitted in accordance with the Creative Commons Deed, Attribution 2.5, which does not permit commercial exploitation.

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Structure of the wild-type c. [833T; –] and c. [833C; 844_845ins68] CBS chromosomes. A:The genomic organization of the CBS gene, with exons depicted as numbered black boxes and the initiator ATG in exon 1 indicated by an upward-pointing arrow. Markers genotyped in this study are denoted by downward-pointing arrows. B: Boxed uppercase letters represent the sequence of wild-type exon 8. The lowercase sequence corresponds to flanking intronic regions. The thymidine residue at nucleotide position 833 is marked by an arrow. C:The sequence of the variant c. [833C; 844_845ins68] chromosome. The 68-bp insertion between nucleotides 844 and 845 is bracketed. Both the mutation c.833C in exon 8 and the wild-type thymidine 833 within the 68-bp insertion sequence are indicated by arrows. Motifs corresponding to DNA polymerase α/β frameshift hotspots and inverted repeats are shaded and underlined, respectively.