• mutations
  • Although PCR-based detection of insertions and deletions is straightforward, detection of point mutations, such as those introduced by chemicals, is challenging, because the amplified fragment does not change in size. (genetics.org)
  • Moreover, it permits the detection of chromosomal abnormalities and gene copy number variations (CNVs) within and between cells, and further facilitates the detection of uncommon mutations that result in single nucleotide polymorphisms (SNPs). (wikipedia.org)
  • disease
  • Heterozygotes for the disease are usually identified by their relatively low ratio of heat-labile HEX A to total hexosaminidase. (biomedsearch.com)
  • A significant increase in the hepatobiliary excretion of protoporphyrin can damage the liver through both cholestatic phenomena and oxidative stress - predisposing to hepatobiliary disease of varying degrees of severity EPP is generally suspected by the presence of acute photosensitivity of the skin and can be confirmed by detection of a plasmatic fluorescence peak at 634 nm. (wikipedia.org)