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).

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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
Digital Object Identifier (DOI): doi:10.1007/BF02267068
ISSNs: 0340-6717 (print)
Subjects:
ePrint ID: 193823
Date :
Date Event
April 1996Published
Date Deposited: 20 Jul 2011 14:09
Last Modified: 18 Apr 2017 01:44
Further Information:Google Scholar
URI: http://eprints.soton.ac.uk/id/eprint/193823

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