Figure 1. (a) Missense point mutations of the GLA gene and (b) point mutations of the GLA gene that affect splice sites (top) or result in immediate termination of protein translation (nonsense mutation, bottom).

Figure 1

(a) Missense point mutations of the GLA gene and (b) point mutations of the GLA gene that affect splice sites (top) or result in immediate termination of protein translation (nonsense mutation, bottom). Mutations are grouped according to their position in the seven exons and flanking intronic sequences. Numbers on top of the columns give the total number of mutations listed. Mutated variants are written in bold or underlined if they result from a change of the same nucleotide in the codon. If more than one mutated allele is known, the wild type is given only in the first line.

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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