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).


Full text not available from this repository.


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)
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

Actions (login required)

View Item View Item