✦ LIBER ✦

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

✍ Scribed by René Santer; Sebastian Groth; Martina Kinner; Anja Dombrowski; Gerard T. Berry; Johannes Brodehl; James V. Leonard; Shimon Moses; Svante Norgren; Flemming Skovby; Reinhard Schneppenheim; Beat Steinmann; Jürgen Schaub

Publisher: Springer
Year: 2001
Tongue: English
Weight: 61 KB
Volume: 110
Category: Article
ISSN: 0340-6717
DOI: 10.1007/s00439-001-0638-6

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

Clinical spectrum of Kufor-Rakeb syndrom

Clinical spectrum of Kufor-Rakeb syndrome in the Chilean kindred with ATP13A2 mutations

✍ Maria I. Behrens; Norbert Brüggemann; Pedro Chana; Pablo Venegas; Marianne Kägi; 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 207 KB

## Abstract We report the clinical features of the original Chilean family with Kufor‐Rakeb syndrome (KRS) that led to the discovery of the __ATP13A2__ gene at the PARK9 locus. KRS is a rare juvenile‐onset autosomal recessive disease characterized by progressive Parkinsonism, pyramidal signs, and c

Novel mutation in the tyrosine kinase do

Novel mutation in the tyrosine kinase domain of FGFR2 in a patient with Pfeiffer syndrome

✍ Andreas Zankl; Gudrun Jaeger; Luisa Bonafé; Eugen Boltshauser; Andrea Superti-Fu 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 60 KB 👁 2 views

Insulin resistance in Type 2 (non-insuli

Insulin resistance in Type 2 (non-insulin-dependent) diabetic patients and their relatives is not associated with a defect in the expression of the insulin-responsive glucose transporter (GLUT-4) gene in human skeletal muscle

✍ J. Eriksson; L. Koranyi; R. Bourey; C. Schalin-Jäntti; E. Widén; M. Mueckler; A. 📂 Article 📅 1992 🏛 Springer 🌐 English ⚖ 769 KB

Mutations of the iduronate-2-sulfatase g

Mutations of the iduronate-2-sulfatase gene on a T146T background in three patients with Hunter syndrome

✍ Peining Li; Paula Huffman; Jerry N. Thompson 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 513 KB

Mutation spectrum in patients with Rett

Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions

✍ F. Laccone; P. Huppke; F. Hanefeld; M. Meins 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 244 KB

Mutations in the MECP2 (Methyl-CpG-binding protein) gene recently have been reported to cause Rett syndrome (RTT), an X-linked dominant neurodevelopmental disease. We investigated 125 sporadic cases of Rett syndrome by direct sequencing. Thirty different mutations were found in 97 patients with Rett