The University of Southampton
University of Southampton Institutional Repository

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.

This record has no associated files available for download.

More information

Published date: April 1996

Identifiers

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

Catalogue record

Date deposited: 20 Jul 2011 14:09
Last modified: 14 Mar 2024 03:56

Export record

Altmetrics

Contributors

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

Download statistics

Downloads from ePrints over the past year. Other digital versions may also be available to download e.g. from the publisher's website.

View more statistics

Atom RSS 1.0 RSS 2.0

Contact ePrints Soton: eprints@soton.ac.uk

ePrints Soton supports OAI 2.0 with a base URL of http://eprints.soton.ac.uk/cgi/oai2

This repository has been built using EPrints software, developed at the University of Southampton, but available to everyone to use.

We use cookies to ensure that we give you the best experience on our website. If you continue without changing your settings, we will assume that you are happy to receive cookies on the University of Southampton website.

×