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Novel trinucleotide deletion in Fabry's disease

Novel trinucleotide deletion in Fabry's disease
Novel trinucleotide deletion in Fabry's disease
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.
0340-6717
468-470
Cariolou, Marios A.
946fd2f8-8b4e-4756-acde-93fdf12088fc
Christodoulides, Michael
4f4ebafb-226e-4bdf-9c87-f7feb14aae6b
Manoli, Panayiotis
225da995-4e72-4730-b6d6-d3c7d2fd16c5
Kokkofitou, Avgousta
235fd89c-b349-4bef-8559-61fdd7b54bc3
Tsambaos, Dionysios
a7b95380-b295-40bb-b3cd-0072cd6b4f2c
Cariolou, Marios A.
946fd2f8-8b4e-4756-acde-93fdf12088fc
Christodoulides, Michael
4f4ebafb-226e-4bdf-9c87-f7feb14aae6b
Manoli, Panayiotis
225da995-4e72-4730-b6d6-d3c7d2fd16c5
Kokkofitou, Avgousta
235fd89c-b349-4bef-8559-61fdd7b54bc3
Tsambaos, Dionysios
a7b95380-b295-40bb-b3cd-0072cd6b4f2c

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

Record type: Article

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.

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Published date: April 1996

Identifiers

Local EPrints ID: 193823
URI: https://eprints.soton.ac.uk/id/eprint/193823
ISSN: 0340-6717
PURE UUID: 65da9bd2-9438-47b9-8edc-bec3a676bfca

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Date deposited: 20 Jul 2011 14:09
Last modified: 16 Jul 2019 23:25

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Contributors

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

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