Author:
Joensuu Tarja,Kuronen Mervi,Alakurtti Kirsi,Tegelberg Saara,Hakala Paula,Aalto Antti,Huopaniemi Laura,Aula Nina,Michellucci Roberto,Eriksson Kai,Lehesjoki Anna-Elina
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Reference29 articles.
1. Bespalova IN, Pranzatelli M, Burmeister M : G to C transversion at a splice acceptor site causes exon skipping in the cystatin B gene. Mutat Res 1997; 382: 67–74.
2. Kagitani-Shimono K, Imai K, Okamoto N, Ono J, Okada S : Unverricht-Lundborg disease with cystatin B gene abnormalities. Pediatr Neurol 2002; 26: 55–60.
3. Lafreniere RG, Rochefort DL, Chretien N et al: Unstable insertion in the 5′flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1. Nat Genet 1997; 15: 298–302.
4. Lalioti MD, Mirotsou M, Buresi C et al: Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1). Am J Hum Genet 1997; 60: 342–351.
5. Lalioti MD, Scott HS, Buresi C et al: Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy. Nature 1997; 386: 847–851.
Cited by
63 articles.
订阅此论文施引文献
订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献