Novel trinucleotide deletion in Fabry's disease

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, w...

Full description

Saved in:
Bibliographic Details
Published in:Human genetics 1996-04, Vol.97 (4), p.468-470
Main Authors: CARIOLOU, M. A, CHRISTODOULIDES, M, MANOLI, P, KOKKOFITOU, A, TSAMBAOS, D
Format: Article
Language:English
Subjects:
Base Sequence
Biological and medical sciences
Errors of metabolism
Fabry Disease - genetics
Humans
Lipids (lysosomal enzyme disorders, storage diseases)
Male
Medical sciences
Metabolic diseases
Middle Aged
Molecular Sequence Data
Mutation
Pedigree
Polymerase Chain Reaction
Sequence Deletion - genetics
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:0340-6717
1432-1203
DOI:10.1007/BF02267068