✦ LIBER ✦

A novel missense mutation of SLC7A9 frequent in Japanese cystinuria cases affecting the C-terminus of the transporter

✍ Scribed by Shigeta, Y; Kanai, Y; Chairoungdua, A; Ahmed, N; Sakamoto, S; Matsuo, H; Kim, D K; Fujimura, M; Anzai, N; Mizoguchi, K

Book ID: 110052629
Publisher: Nature Publishing Group
Year: 2006
Tongue: English
Weight: 352 KB
Volume: 69
Category: Article
ISSN: 0085-2538
DOI: 10.1038/sj.ki.5000241

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Cystinuria in children: Distribution and

Cystinuria in children: Distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes

✍ Botzenhart, Elke; Vester, Udo; Schmidt, Christa; Hesse, Albrecht; Halber, Marc; 📂 Article 📅 2002 🏛 Nature Publishing Group 🌐 English ⚖ 81 KB

A novel missense mutation (Thr176→IIe) a

A novel missense mutation (Thr176→IIe) at the putative hinge of the neo N-terminus of activated protein C

✍ Paula J. Hallam; Adam I. Wacey; Pier M. Mannucci; Cristina Legnani; Wolfgang Küh 📂 Article 📅 1995 🏛 Springer 🌐 English ⚖ 745 KB

A novel missense mutation (Y89C) in exon

A novel missense mutation (Y89C) in exon 3 of the CFTR (ABCC7) gene in a young male

✍ Rita Padoan; Diana Costantini; Maria Chiara Russo; Antonella Ambrosioni; Sabrina 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 11 KB 👁 3 views

Novel missense mutation (W686C) of the p

Novel missense mutation (W686C) of the phosphofructokinase-M gene in a Japanese patient with a mild form of glycogenosis VII

✍ Tomoya Hamaguchi; Hiromu Nakajima; Tamio Noguchi; Chisa Nakagawa; Masamichi Kuwa 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 250 KB 👁 3 views

A novel missense mutation c.470 A>C (p.D

A novel missense mutation c.470 A>C (p.D157A) in the SLC40A1 gene as a cause of ferroportin disease in a family with hyperferritinaemia

✍ Khalid Saja; Patricia Bignell; Kathryn Robson; Drew Provan 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 193 KB

LC-MS/MS determination of dibasic amino

LC-MS/MS determination of dibasic amino acids for the diagnosis of cystinuria. Application in a family affected by a novel splice-acceptor site mutation in theSLC7A9gene

✍ O. Y. Al-Dirbashi; K. K. Abu-Amero; A. F. Alswaid; G. F. Hoffmann; K. Al-Qahtani 📂 Article 📅 2007 🏛 Springer 🌐 English ⚖ 224 KB