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Multiple founder effects in Japanese families with primary torsion dystonia harboring the GAG deletion in theTOR1A(DYT1) gene

✍ Scribed by Takeshi Ikeuchi; Yoshiko Nomura; Masaya Segawa; Laurie J. Ozelius; Takayoshi Shimohata; Shoji Tsuji


Publisher
Springer
Year
2002
Tongue
English
Weight
187 KB
Volume
4
Category
Article
ISSN
1364-6745

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A common 3-bp deletion in the DYT1 gene
✍ Petr A. Slominsky; Elena D. Markova; Marya I. Shadrina; Sergey N. Illarioshkin; πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 76 KB

Hereditary torsion dystonia represent a clinically and genetically heterogeneous group of movement disorders. The most severe and frequent form of hereditary torsion dystonia is early-onset generalized dystonia, DYT1. The DYT1 gene (Ozelius et al, 1997) encodes an ATP-binding protein torsin A. A uni