The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein
β Scribed by Ward, Christopher J.; Hogan, Marie C.; Rossetti, Sandro; Walker, Denise; Sneddon, Tam; Wang, Xiaofang; Kubly, Vicky; Cunningham, Julie M.; Bacallao, Robert; Ishibashi, Masahiko
- Book ID
- 109919717
- Publisher
- Nature Publishing Group
- Year
- 2002
- Tongue
- English
- Weight
- 500 KB
- Volume
- 30
- Category
- Article
- ISSN
- 1061-4036
- DOI
- 10.1038/ng833
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π SIMILAR VOLUMES
Polycystic kidney disease (PKD) is a common autosomal dominant genetic disorder caused by mutation in at least two different gene loci. The PKD1 gene has been localized on the short arm of chromosome 16. The location of a second genetic locus in the human genome is not yet known. A large PKD kindred
Sixty-seven Italian patients with auto-soma1 dominant polycystic kidney disease (ADPKD) were screened for mutations in the 3' unique region of the PKDl gene, using heteroduplex DNA analysis. Novel aberrant bands were detected in 3 patients from the same family. DNA sequencing showed a C to T transit