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S Miyabayashi Selected Research

RNA Splice Sites

11/2001A 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.

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S Miyabayashi Research Topics

Disease

2Hepatorenal form of glycogen storage disease
05/2000 - 03/2000
1Barth Syndrome
11/2001
1Mitochondrial cytopathy
04/2001
1Segmental glomerulosclerosis
04/2001
1Focal Segmental Glomerulosclerosis (Glomerulosclerosis, Focal)
04/2001
1Mitochondrial Diseases (Mitochondrial Disease)
05/2000

Drug/Important Bio-Agent (IBA)

2Mitochondrial DNA (mtDNA)IBA
04/2001 - 05/2000
2Glucose-6-Phosphatase (Glucose 6 Phosphatase)IBA
05/2000 - 03/2000
2GlycogenIBA
05/2000 - 03/2000
1RNA Splice SitesIBA
11/2001
1Leu Transfer RNAIBA
04/2001
1Messenger RNA (mRNA)IBA
03/2000