Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia

  1. Marti-Masso, J.F.
  2. Ruiz-Martínez, J.
  3. Makarov, V.
  4. De Munain, A.L.
  5. Gorostidi, A.
  6. Bergareche, A.
  7. Yoon, S.
  8. Buxbaum, J.D.
  9. Paisán-Ruiz, C.
Revue:
Human Genetics

ISSN: 0340-6717 1432-1203

Année de publication: 2012

Volumen: 131

Número: 3

Pages: 435-442

Type: Article

DOI: 10.1007/S00439-011-1086-6 GOOGLE SCHOLAR

Objectifs de Développement Durable