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), 468-470. (doi:10.1007/BF02267068). (PMID:8834244).

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Description/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.

Item Type: Article
ISSNs: 0340-6717 (print)
1432-1203 (electronic)
Subjects: R Medicine > RB Pathology
Q Science > QH Natural history > QH426 Genetics
Divisions: University Structure - Pre August 2011 > School of Medicine > Infection, Inflammation and Repair
ePrint ID: 193823
Date Deposited: 20 Jul 2011 14:09
Last Modified: 27 Mar 2014 19:44
URI: http://eprints.soton.ac.uk/id/eprint/193823

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