Article
Gene conversion is a likely cause of mutation in PKD1.
Human molecular genetics - 1 Aug 1998
Watnick T J, Gandolph M A, Weber H, Neumann H P, Germino G G
Abstract excerpt
Approximately 70% of the gene responsible for the most common form of autosomal dominant polycystic kidney disease ( PKD1 ) is replicated in several highly homologous copies located more proximally on chromosome 16. We recently have described a novel technique for mutation detection in the duplic...
Topics
- Gene Conversion
- Humans
- Mutation
- Polycystic Kidney, Autosomal Dominant
- Proteins
- Sequence Analysis, DNA
- TRPP Cation Channels