Á lódáil...

Mutations in the KIAA0196 Gene at the SPG8 Locus Cause Hereditary Spastic Paraplegia

Hereditary spastic paraplegia (HSP) is a progressive upper-motor neurodegenerative disease. The eighth HSP locus, SPG8, is on chromosome 8p24.13. The three families previously linked to the SPG8 locus present with relatively severe, pure spastic paraplegia. We have identified three mutations in the...

Cur síos iomlán

Na minha lista:
Sonraí Bibleagrafaíochta
Main Authors: Valdmanis, Paul N., Meijer, Inge A., Reynolds, Annie, Lei, Adrienne, MacLeod, Patrick, Schlesinger, David, Zatz, Mayana, Reid, Evan, Dion, Patrick A., Drapeau, Pierre, Rouleau, Guy A.
Formáid: Artigo
Teanga:Inglês
Foilsithe: The American Society of Human Genetics 2007
Ábhair:
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1785307/
https://ncbi.nlm.nih.gov/pubmed/17160902
Clibeanna: Cuir Clib Leis
Gan Chlibeanna, Bí ar an gcéad duine leis an taifead seo a chlibeáil!