Denaturing gradient gel electrophoresis for the molecular characterization of six patients with guanidinoacetate methyltransferase deficiency.
Item
Chike B
CB
Department of Pediatrics, University Hospital and General Hospital (AKH), Währingerstrasse 18-20, A-1090 Vienna, Austria.
Stromberger
Carmen
C
Mühl
Adolf
A
Edlinger
Claudia
C
Bodamer
Olaf A
OA
Schulze
Andreas
A
Surtees
Robert
R
Leuzzi
Vincenzo
V
Salomons
Gajja S
GS
Jakobs
Cornelis
C
Stöckler-Ipsiroglu
Sylvia
S
D004591:Electrophoresis, Polyacrylamide Gel / Q000379:methods; D050937:Guanidinoacetate N-Methyltransferase; D006801:Humans; D008780:Methyltransferases / Q000172:deficiency* / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D020133:Reverse Transcriptase Polymerase Chain Reaction
D008780:Methyltransferases; D050937:Guanidinoacetate N-Methyltransferase