Tetrahydrobiopterin deficiencies are highly heterogeneous disorders, with more than 30 molecular lesions identified in the past 2 years in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes. The spectrum of mutations causing a reduction of these two biosynthetic enzymes is revie
✦ LIBER ✦
Linkage Analysis of the hph-1 Mutation and the GTP Cyclohydrolase I Structural Gene
✍ Scribed by Cindy S. Montañez; J.David McDonald
- Book ID
- 115639571
- Publisher
- Elsevier Science
- Year
- 1999
- Tongue
- English
- Weight
- 30 KB
- Volume
- 68
- Category
- Article
- ISSN
- 1096-7192
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
Mutations in the GTP cyclohydrolase I an
✍
Beat Thöny; Nenad Blau
📂
Article
📅
1997
🏛
John Wiley and Sons
🌐
English
⚖ 136 KB
Molecular Genetics of Hereditary Dystoni
✍
Hiroshi Ichinose; Toshiharu Nagatsu
📂
Article
📅
1997
🏛
Elsevier Science
🌐
English
⚖ 118 KB
Biochemical Defect of the hph-1 Mouse Mu
✍
J. David McDonald; Richard G. H. Cotton; Ian Jennings; Fred D. Ledley; Savio L.
📂
Article
📅
1988
🏛
John Wiley and Sons
🌐
English
⚖ 276 KB
GTP-cyclohydrolase I gene mutations in p
✍
B. Garavaglia; F. Invernizzi; M. L. Agostoni Carbone; V. Viscardi; F. Saracino;
📂
Article
📅
2004
🏛
Springer
🌐
English
⚖ 681 KB
A new mutation (Thr106Ile) of the GTP cy
✍
Etsuro Ohta; Itaru Toyoshima; Manabu Funayama; Hiroshi Ichinose; Kazuko Hasegawa
📂
Article
📅
2005
🏛
John Wiley and Sons
🌐
English
⚖ 94 KB
and based on circumstantial evidence. The exact diagnosis was not appreciated by the treating physicians during the acute phase and hence no therapeutic benefit that could have been obtainable with intravenous anticholinergics was tested. However, the onset of the laryngospasm soon after receiving p
Cloning, sequencing and functional studi
✍
Klaus Witter; Thomas Werner; Jürgen H. Blusch; Eva-Maria Schneider; Olaf Riess;
📂
Article
📅
1996
🏛
Elsevier Science
🌐
English
⚖ 720 KB