A novel mutation in the SPG3A gene (atlastin) in hereditary spastic paraplegia.
Matsui
Masaru
M
Kawarai
Toshitaka
T
Hase
Yoshiki
Y
Tomimoto
Hidekazu
H
Iseki
Kazumi
K
Rogaeva
Ekaterina
E
Orlacchio
Antonio
A
Bernardi
Giorgio
G
St George-Hyslop
Peter
P
Takahashi
Ryosuke
R
Matsui
Makoto
M
D000328:Adult; D003545:Cysteine / Q000235:genetics; D004252:DNA Mutational Analysis / Q000379:methods; D005192:Family Health; D005260:Female; D020558:GTP Phosphohydrolases / Q000235:genetics*; D019204:GTP-Binding Proteins; D008040:Genetic Linkage; D006801:Humans; D007564:Japan; D008565:Membrane Proteins; D011110:Polymorphism, Genetic / Q000235:genetics*; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics*; D014443:Tyrosine / Q000235:genetics
D008565:Membrane Proteins; D014443:Tyrosine; C440006:ATL1 protein, human; D020558:GTP Phosphohydrolases; D019204:GTP-Binding Proteins; D003545:Cysteine