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Genomics. 1998 Aug 15;52(1):44-9.

Blind analysis of denaturing high-performance liquid chromatography as a tool for mutation detection.

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Division of Psychological Medicine, University of Wales College of Medicine, Heath Park, Cardiff, CF4 4XN, United Kingdom


Denaturing high-performance liquid chromatography (DHPLC) is a novel high-capacity technique for detecting new mutations. We have evaluated the sensitivity and specificity of this method in a blind analysis of exon H of the factor IX gene and exon 16 of the neurofibromatosis type 1 gene. Under a single set of conditions for each exon, 55/55 individuals carrying 48 unique mutations were correctly identified as were 55/55 individuals with wildtype alleles. We conclude that DHPLC is a highly sensitive and specific method for mutation detection.

[Indexed for MEDLINE]

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