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.
|Digital Object Identifier (DOI):||doi:10.1007/BF02267068|
|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
|Accepted Date and Publication Date:||
|Date Deposited:||20 Jul 2011 14:09|
|Last Modified:||31 Mar 2016 13:43|
|RDF:||RDF+N-Triples, RDF+N3, RDF+XML, Browse.|
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