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 |
| Item ID: | 193823 |
| Date Deposited: | 20 Jul 2011 14:09 |
| Last Modified: | 26 Apr 2013 00:48 |
| Contributors: | Cariolou, Marios A. (Author) Christodoulides, Michael (Author) Manoli, Panayiotis (Author) Kokkofitou, Avgousta (Author) Tsambaos, Dionysios (Author) |
| Date: | April 1996 |
| Status: | Published |
| URI: | http://eprints.soton.ac.uk/id/eprint/193823 |
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