Article
A novel intronic mutation of the TAZ ( G4.5) gene in a patient with Barth syndrome: creation of a 5' splice donor site with variant GC consensus and elongation of the upstream exon.
Human genetics - 1 Nov 2001
Sakamoto O, Ohura T, Katsushima Y, Fujiwara I, Ogawa E, Miyabayashi S, Iinuma K
Abstract excerpt
Mutation analysis of the TAZ ( G4.5) gene was performed on a patient with Barth syndrome. The reverse transcription/polymerase chain reaction procedure showed aberrant splicing and elongation of exon 3 because of the insertion of 106 bases (IVS3+1 to +106) between exons 3 and 4. The genomic DNA revealed an intronic mutation four bases downstream from the new cleavage site (IVS3+110G-->A). The IVS3+110G-->A...
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