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Novel missense mutations and a 288-bp exonic insertion inPAX9 in families with autosomal dominant hypodontia

✍ Scribed by Das, Parimal ;Hai, Mehreen ;Elcock, Claire ;Leal, Suzanne M. ;Brown, Donald T. ;Brook, Alan H. ;Patel, Pragna I.


Publisher
John Wiley and Sons
Year
2003
Tongue
English
Weight
272 KB
Volume
118A
Category
Article
ISSN
0148-7299

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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