✦ LIBER ✦

Mutations of thePKD1gene among Japanese autosomal dominant polycystic kidney disease patients, including one heterozygous mutation identified in members of the same family

✍ Scribed by M. Mizoguchi; T. Tamura; A. Yamaki; E. Higashihara; Y. Shimizu

Publisher: Nature Publishing Group
Year: 2001
Tongue: English
Weight: 262 KB
Volume: 46
Category: Article
ISSN: 1435-232X
DOI: 10.1007/s100380170032

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Three novel mutations of the PKD1 gene i

Three novel mutations of the PKD1 gene in Italian families with autosomal dominant polycystic kidney disease

✍ Alberto E. Turco; Sandro Rossetti; Elena Bresin; Sabine Englisch; Stefano Corrà; 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 161 KB 👁 2 views

Detection of a novel nonsense mutation a

Detection of a novel nonsense mutation and an intragenic polymorphism in the PKD1 gene of a Cypriot family with autosomal dominant polycystic kidney disease

✍ Pavlos Neophytou; Rolandos Constantinides; Akis Lazarou; Alkis Pierides; C. Cons 📂 Article 📅 1996 🏛 Springer 🌐 English ⚖ 76 KB

Autosomal dominant polycystic kidney dis

Autosomal dominant polycystic kidney disease (ADPKD) in an Italian family carrying a novel nonsense mutation and two missense changes in exons 44 and 45 of the PKD1 gene

✍ Rossetti, Sandro; Bresin, Elena; Restagno, Gabriella; Carbonara, Angelo; Corrà, 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 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