PubMed ID | Description |
---|---|
8650545 | Mozichuki et al. (1996): Description of three distinct nonsense mutations segregating with polycystic kidney disease in three families. |
9402976 | Viribay et al. (1997): Seven additional mutations are described segregating with disease amongst families - three nonsense and four frameshift deletions. |
See GeneReviews and OMIM entries for a detailed description of polycystic kidney disease, and additional information regarding the mutational spectrum of PKD2.