✦ LIBER ✦

Recurrence of the PKD1 nonsense mutation Q4041X in Spanish, Italian, and British families

✍ Scribed by Dr. Roser Torra; Cèlia Badenas; Belén Peral; Alejandro Darnell; Eduard Serra; Vicki Gamble; Alberto E. Turco; Peter C. Harris; Xavier Estivill

Book ID: 102261680
Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 431 KB
Volume: 11
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.1380110139

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Recurrent Missense (R197C) and Nonsense

Recurrent Missense (R197C) and Nonsense (Y89X) Mutations in the XLRS1 Gene in Families with X-Linked Retinoschisis

✍ Barkur S. Shastry; Fielding J. Hejtmancik; Michael T. Trese 📂 Article 📅 1999 🏛 Elsevier Science 🌐 English ⚖ 52 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

Investigation of the W185X nonsense muta

Investigation of the W185X nonsense mutation ofPVRL1 gene in Italian nonsyndromic cleft lip and palate patients

✍ Scapoli, Luca ;Marchesini, Jlenia ;Palmieri, Annalisa ;Carinci, Francesco ;Pezze 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 32 KB 👁 1 views

Mutation detection in the duplicated reg

Mutation detection in the duplicated region of the polycystic kidney disease 1 (PKD1) gene in PKD1-linked Australian families

✍ Marie McCluskey; Tina Schiavello; Michael Hunter; Janina Hantke; Dora Angelichev 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 424 KB

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

Identification of two novel mutations (1

Identification of two novel mutations (1448delA and Q682X) in the NF1 gene and analysis for nonsense mutations in patients with neurofibromatosis type 1

✍ Takahiko Horiuchi; Nobuaki Hatta; Ichiro Watanabe; Yuzuru Kobayashi; Margaret R. 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 266 KB 👁 1 views