✦ LIBER ✦

A newly recognized missense mutation in theGLUT2gene in a patient with Fanconi-Bickel syndrome

✍ Scribed by Masahiko Tsuda; Emiko Kitasawa; Hiroyuki Ida; Yoshikatsu Eto; Misao Owada

Publisher: Springer
Year: 2000
Tongue: English
Weight: 65 KB
Volume: 159
Category: Article
ISSN: 0340-6997
DOI: 10.1007/s004310000600

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Identification of a novel mutation in th

Identification of a novel mutation in theGLUT2gene in a patient with Fanconi-Bickel syndrome presenting with neonatal diabetes mellitus and galactosaemia

✍ Han-Wook Yoo; Young-Lim Shin; Eul-Ju Seo; Gu-Hwan Kim 📂 Article 📅 2002 🏛 Springer 🌐 English ⚖ 96 KB

The mutation spectrum of the facilitativ

The mutation spectrum of the facilitative glucose transporter geneSLC2A2 (GLUT2)in patients with Fanconi-Bickel syndrome

✍ René Santer; Sebastian Groth; Martina Kinner; Anja Dombrowski; Gerard T. Berry; 📂 Article 📅 2001 🏛 Springer 🌐 English ⚖ 61 KB

Impaired complex I assembly in a Leigh s

Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene

✍ Cristina Ugalde; Ralf H. Triepels; Marieke J.H. Coenen; Lambert P. Van Den Heuve 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 335 KB 👁 2 views

Missense mutations in the COL4A5 gene in

Missense mutations in the COL4A5 gene in patients with X-linked alport syndrome

✍ Tauro M. Neri; Paola Zanelli; Giuseppe De Palma; Mario Savi; Sandro Rossetti; Al 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 316 KB

Novel missense mutation (R94S) in theTAZ

Novel missense mutation (R94S) in theTAZ(G4.5) gene in a Japanese patient with Barth syndrome

✍ O. Sakamoto; T. Kitoh; T. Ohura; N. Ohya; K. Iinuma 📂 Article 📅 2002 🏛 Nature Publishing Group 🌐 English ⚖ 68 KB

Missense mutation (I143T) in a Japanese

Missense mutation (I143T) in a Japanese patient with Canavan disease

✍ Keiko Kobayashi; Seiichi Tsujino; Takanori Ezoe; Hiroshi Hamaguchi; Kenji Nihei; 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 175 KB