Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease
✍ Scribed by Peters, D.J.M.; Spruit, L.; Saris, J.J.; Ravine, D.; Sandkuijl, L.A.; Fossdal, R.; Boersma, J.; van Eijk, R.; Nørby, S.; Constantinou-Deltas, C.D.
- Book ID
- 109918832
- Publisher
- Nature Publishing Group
- Year
- 1993
- Tongue
- English
- Weight
- 388 KB
- Volume
- 5
- Category
- Article
- ISSN
- 1061-4036
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Autosomal dominant polycystic kidney disease (ADPKD) arises from mutations in the PKD1 and PKD2 genes. The Polycystic Kidney Disease Mutation Database (PKDB) is an internet-accessible relational database containing comprehensive information about germline and somatic disease-causing variants within
The results of classical segregation analysis on 159 families with polycystic kidney disease (PKD) are presented. It had been previously estimated that about 95% of autosomal dominant PDK (ADPKD) families have PKD 1, the gene localized to chromosome 16p. The main purpose of the study was to determin