𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Novel Mutation in SLC6A19 Causing Late-Onset Seizures in Hartnup Disorder

✍ Scribed by Chong Kun Cheon; Beom Hee Lee; Jung Min Ko; Hyun-Ji Kim; Han-Wook Yoo


Book ID
116825707
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
321 KB
Volume
42
Category
Article
ISSN
0887-8994

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Missense mutations in the sodium borate
✍ S. Amer Riazuddin; Eranga N. Vithana; Li-Fong Seet; Yangjian Liu; Amr Al-Saif; L πŸ“‚ Article πŸ“… 2010 πŸ› John Wiley and Sons 🌐 English βš– 366 KB

Homozygous mutations in the Borate Cotransporter SLC4A11 cause two early-onset corneal dystrophies: congenital hereditary endothelial dystrophy (CHED) and Harboyan syndrome. More recently, four sporadic patients with late-onset Fuchs corneal dystrophy (FCD), a common age-related disorder, were also