Refined linkage to the RDP/DYT12 locus on 19q13.2 and evaluation of GRIK5 as a candidate gene.
Mov Disord
; 19(7): 845-847, 2004 Jul.
Article
em En
| MEDLINE
| ID: mdl-15254951
ABSTRACT
By examining two previously described families with rapid-onset dystonia parkinsonism, we have identified a key recombination event that places the disease locus (DYT12) into a 5.9 cM interval flanked by markers D19S224 and D19S900. Evaluation of a positional candidate gene, the glutamate receptor subunit GRIK5, revealed no mutations.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Cromossomos Humanos Par 19
/
Receptores de Glutamato Metabotrópico
/
Transtornos Parkinsonianos
/
Distonia
Limite:
Humans
Idioma:
En
Ano de publicação:
2004
Tipo de documento:
Article