Article
Comparative multiplex dosage analysis detects whole exon deletions at the phenylalanine hydroxylase locus.
Human mutation - 1 Apr 2003
Gable Mary, Williams Margaret, Stephenson Anne, Okano Yoshiyuki, Ring Susan, Hurtubise Melanie, Tyfield Linda
Abstract excerpt
We have developed quantitative comparative multiplex dosage analysis to detect altered copy number of regions of the phenylalanine hydroxylase gene. Out of 41 alleles (4% of 1,010 PKU chromosomes) on which a mutation had not been characterized previously, this technique has highlighted two novel mutations: deletions of exon 5 and of exon 6 on a total of eight alleles. Restriction-enzyme digestion of genomic DNA...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.