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The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein

✍ 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

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Genetic linkage studies of autosomal dom
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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

Autosomal dominant polycystic kidney dis
✍ Rossetti, Sandro; Bresin, Elena; Restagno, Gabriella; Carbonara, Angelo; CorrΓ , πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 528 KB

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