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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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
Digital Object Identifier (DOI): doi:10.1007/BF02267068
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
Accepted Date and Publication Date:
April 1996Published
Date Deposited: 20 Jul 2011 14:09
Last Modified: 31 Mar 2016 13:43

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