Screening for Mutations in Kidney-Related Genes Using SURVEYOR Nuclease for Cleavage at Heteroduplex Mismatches
- 31 July 2009
- journal article
- Published by Elsevier BV in The Journal of Molecular Diagnostics
- Vol. 11 (4), 311-318
- https://doi.org/10.2353/jmoldx.2009.080144
Abstract
No abstract availableKeywords
This publication has 41 references indexed in Scilit:
- NPHS2 screening with SURVEYOR in Hellenic children with steroid-resistant nephrotic syndromePediatric Nephrology, 2008
- Rapid identification of mitochondrial DNA (mtDNA) mutations in neuromuscular disorders by using surveyor strategyMitochondrion, 2008
- Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencingHuman Mutation, 2008
- TP53Mutations and Survival in Squamous-Cell Carcinoma of the Head and NeckNew England Journal of Medicine, 2007
- COL4A3/COL4A4 Mutations Producing Focal Segmental Glomerulosclerosis and Renal Failure in Thin Basement Membrane NephropathyJournal of the American Society of Nephrology, 2007
- Development of a Rapid, Reliable Genetic Test for Pseudoxanthoma ElasticumThe Journal of Molecular Diagnostics, 2007
- Rapid identification of unknown heteroplasmic mutations across the entire human mitochondrial genome with mismatch-specific Surveyor NucleaseNature Protocols, 2006
- A new detection method for ATRX gene mutations using a mismatch‐specific endonucleaseAmerican Journal of Medical Genetics Part A, 2006
- TRPC6 is a glomerular slit diaphragm-associated channel required for normal renal functionNature Genetics, 2005
- Benign familial hematuria due to mutation of the type IV collagen alpha4 gene.JCI Insight, 1996