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Novel trinucleotide deletion in Fabry's disease

Cariolou, Marios A., Christodoulides, Michael, Manoli, Panayiotis, Kokkofitou, Avgousta and Tsambaos, Dionysios (1996) Novel trinucleotide deletion in Fabry's disease Human Genetics, 97, (4), pp. 468-470. (doi:10.1007/BF02267068). (PMID:8834244).

Record type: Article


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.

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Published date: April 1996


Local EPrints ID: 193823
ISSN: 0340-6717
PURE UUID: 65da9bd2-9438-47b9-8edc-bec3a676bfca

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Date deposited: 20 Jul 2011 14:09
Last modified: 18 Jul 2017 11:28

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Author: Marios A. Cariolou
Author: Michael Christodoulides
Author: Panayiotis Manoli
Author: Avgousta Kokkofitou
Author: Dionysios Tsambaos

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