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Comparison of high-resolution melting analysis with denaturing high-performance liquid chromatography for mutation scanning in the ABCA4 gene.

Authors
  • Aguirre-Lamban, Jana
  • Riveiro-Alvarez, Rosa
  • Garcia-Hoyos, Maria
  • Cantalapiedra, Diego
  • Avila-Fernandez, Almudena
  • Villaverde-Montero, Cristina
  • Trujillo-Tiebas, Maria Jose
  • Ramos, Carmen
  • Ayuso, Carmen
Type
Published Article
Journal
Investigative Ophthalmology & Visual Science
Publisher
Association for Research in Vision and Ophthalmology (ARVO)
Publication Date
May 01, 2010
Volume
51
Issue
5
Pages
2615–2619
Identifiers
DOI: 10.1167/iovs.09-4518
PMID: 19959634
Source
Medline
License
Unknown

Abstract

ABCA4 should be analyzed by an optimal screening technique, to perform further characterization of pathologic alleles. The results seemed to show that HRM had better sensitivity and specificity than did dHPLC, with the advantage that some homozygous sequence alterations were identifiable.

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