Article
A Standard Reference Material to determine the sensitivity of techniques for detecting low-frequency mutations, SNPs, and heteroplasmies in mitochondrial DNA.
Genomics - 1 Oct 2005
Hancock Diane K, Tully Lois A, Levin Barbara C
Abstract excerpt
Human mitochondrial DNA (mtDNA) mutations are important for forensic identifications and mitochondrial disease diagnostics. Low-frequency mutations, heteroplasmies, or SNPs scattered throughout the DNA in the presence of a majority of mtDNA with the Cambridge Reference Sequence (CRS) are almost impossible to detect. Therefore, the National Institute of Science and Technology has developed heteroplasmic human...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.