Screening for CHARGE Syndrome Mutations in the CHD7 Gene Using Denaturing High-Performance Liquid Chromatography
Author:
Affiliation:
1. Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
2. Department of Clinical Genetics and Molecular Medicine, National Children's Medical Center, Tokyo, Japan.
Publisher
Mary Ann Liebert Inc
Subject
Genetics (clinical)
Link
http://www.liebertpub.com/doi/pdf/10.1089/gte.2006.10.244
Reference16 articles.
1. Phenotypic spectrum of CHARGE syndrome with CHD7 mutations
2. CHARGE Association: An Update and Review for the Primary Pediatrician
3. Multiplex PCR/liquid chromatography assay for detection of gene rearrangements: application to RB1 gene
4. ‘Touchdown’ PCR to circumvent spurious priming during gene amplification
5. Evaluation of DHPLC analysis in mutational scanning ofNotch3, a gene with a high G-C content
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