Mutations in GTP-cyclohydrolase I gene and vitiligo
✍ Scribed by Raäl de la Fuente-Fernández.
- Book ID
- 118550606
- Publisher
- The Lancet
- Year
- 1997
- Tongue
- English
- Weight
- 197 KB
- Volume
- 350
- Category
- Article
- ISSN
- 0140-6736
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📜 SIMILAR VOLUMES
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
Mutations in the GTP-cyclohydrolase I (GCH) gene have been identified as a cause of two disorders: autosomal dominant hereditary progressive dystonia/dopa-responsive dystonia (HPD/DRD) and autosomal recessive GCH-deficient hyperphenylalaninemia (HPA). Detailed clinical descriptions and genetic analy