Table 2Larger rearrangements of the α-galactosidase A gene affecting one or several exons. Mutations that are indented in the left-hand column have been characterized at the nucleotide level

RearrangementLocation
Deletions
 402 bpExon 3
> 1.5 kbExons 5–7
 1710 bpExons 5–7
3.2 kbExons 3–4
 4519 bpExons 3–7
 4651 bpExons 1–2
Duplications
3.4 kbExon 2*
 8112 bpIntron 1–Exon 6

*E Schäfer and A Gal, unpublished data.

From: Chapter 33, The genetic basis of Fabry disease

Cover of Fabry Disease
Fabry Disease: Perspectives from 5 Years of FOS.
Mehta A, Beck M, Sunder-Plassmann G, editors.
Oxford: Oxford PharmaGenesis; 2006.
Copyright © 2006, Oxford PharmaGenesis™.

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