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Novel trinucleotide deletion in Fabry's disease.

Cariolou M.A., Christodoulides M., Manoli P., Kokkofitou A., Tsambaos D.

We describe the molecular characterization of a novel, in-frame deletion that is located in exon 7 of the alpha-galactosidase A gene in a patient with Fabry's disease. The 3-bp deletion we identified, besides the typical severe clinical features, also expresses diffuse facial telangiectasias, which is a new cutaneous marker of Fabry's disease.

Hum. Genet. 97:468-470(1996) [PubMed] [Europe PMC]

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