Novel WT1 exon 9 mutation (D396Y) in a patient with early onset Denys Drash syndrome

Little, Melissa H., Carman, Gregory and Donaldson, Eric (2000) Novel WT1 exon 9 mutation (D396Y) in a patient with early onset Denys Drash syndrome. Human Mutation, 15 4: 389-389. doi:10.1002/(SICI)1098-1004(200004)15:4<389::AID-HUMU29>3.0.CO;2-E


Author Little, Melissa H.
Carman, Gregory
Donaldson, Eric
Title Novel WT1 exon 9 mutation (D396Y) in a patient with early onset Denys Drash syndrome
Journal name Human Mutation   Check publisher's open access policy
ISSN 1059-7794
1098-1004
Publication date 2000-04
Sub-type Article (original research)
DOI 10.1002/(SICI)1098-1004(200004)15:4<389::AID-HUMU29>3.0.CO;2-E
Volume 15
Issue 4
Start page 389
End page 389
Total pages 1
Place of publication New York, NY, U.S.A.
Publisher Wiley-Liss
Collection year 2000
Language eng
Subject C1
270299 Genetics not elsewhere classified
780105 Biological sciences
Formatted abstract
Individual exons of the WT1 gene were amplified with primers previously reported (King-Underwood et al, 1996). Exons 5 to 10 were investigated as only one DDS mutation has ever been detected prior to exon 6. Sequencing was performed with the ABI PRISM Dye Terminator Cycle Sequencing Ready Reaction Kit (Perkin-Elmer Corporation) according to the manufacturer's instructions. Reactions were resolved on an Applied Biosystems model 373A automated sequencer (Australian Genome Research Facility). PCR fragments from multiple PCR reactions were first directly sequenced. To verify sequences, PCR fragments were additionally subcloned into pGEM-T Easy and multiple subclones sequenced using M13 forward and M13 reverse primers within the plasmid vector.
Q-Index Code C1
Additional Notes Published under "Mutation and Polymorphism Reports".

Document type: Journal Article
Sub-type: Article (original research)
Collection: Institute for Molecular Bioscience - Publications
 
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Created: Tue, 10 Jun 2008, 12:07:59 EST