Article
Detection and assignment of mutations and minihaplotypes in human DNA using peptide mass signature genotyping (PMSG): application to the human RDS/peripherin gene.
Genome research - 1 Aug 2003
Telmer Cheryl A, Retchless Adam C, Kinsey Ashley D, Conley Yvette, Rigatti Brian, Gorin Michael B, Jarvik Jonathan W, Retchless Adam R
Abstract excerpt
Peptide mass-signature genotyping (PMSG) is a scanning genotyping method that identifies mutations and polymorphisms by translating the sequence of interest in more than one reading frame and measuring the masses of the resulting peptides by mass spectrometry. PMSG was applied to the RDS/peripherin gene of 16 individuals from a family exhibiting autosomal dominant macular degeneration. The method revealed an...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.