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Hum Genet. 1996 Apr;97(4):468-70.

Novel trinucleotide deletion in Fabry's disease.

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1
Department of Molecular Genetics, Cyprus Institute of Neurology and Genetics, Nicosia.

Abstract

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.

PMID:
8834244
[Indexed for MEDLINE]
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