1. A De Novo Mutation in the AGXT Gene Causing Primary Hyperoxaluria Type 1 
Emma L. Williams, PhD, Markus J. Kemper, MD, Gill Rumsby, PhD, FRCPath 
American Journal of Kidney Diseases 
Volume 48, Issue 3, Pages (September 2006)
DOI: /j.ajkd
Copyright © 2006 National Kidney Foundation, Inc. Terms and Conditions

2. Fig 1
Family tree showing results of linkage analysis with 2 polymorphic markers, Int 4 (a variable number of tandem repeats in exon 4 of the AGXT gene) and D2S140 (a microsatellite close to the AGXT gene) with the predicted disease alleles shown in boxes. Subsequent mutation analysis showed that II:1 had a de novo mutation on the paternal allele that changed the predicted genotype of II:2 from carrier to unaffected and that of II:3 from affected to carrier.
American Journal of Kidney Diseases  , DOI: ( /j.ajkd )
Copyright © 2006 National Kidney Foundation, Inc. Terms and Conditions