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Figure 1 | Human Genomics

Figure 1

From: Fabry disease: Identification of 50 novel α-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations

Figure 1

α-Gal A Alu-Alu recombination causing deletion of exon 2 in a classically affected male. Wild-type intron 1 and intron 2 sequences are shown above and below the rearrangement in the patient. Bases starred are at the breakpoint between the intron 1 and 2 sequences, while bases underlined indicate those that are identical in introns 1 and 2.

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Human Genomics

ISSN: 1479-7364