Improved strategy for molecular genetic diagnostics in juvenile nephronophthisis

• 30 June 2001
• journal article
• Published by Elsevier in American Journal of Kidney Diseases
• Vol. 37  (6) , 1131-1139
• https://doi.org/10.1053/ajkd.2001.24514

Abstract

Keywords

• GENETIC TESTING
• POLYMORPHIC
• DIAGNOSTIC
• NPH1
• ALLELE
• NEPHRONOPHTHISIS
• POINT MUTATIONS
• NPHP1
• POLYMERASE CHAIN REACTION