Novel trinucleotide deletion in Fabry's disease.
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Cariolou MA, Christodoulides M, Manoli P, Kokkofitou A, Tsambaos D
Novel trinucleotide deletion in Fabry's disease.
Hum Genet. 1996 Apr;97(4):468-70.
- PubMed ID
- 8834244 [ View in PubMed]
- 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.