Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1)

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 79, Issue 12, 2008, Pages 1327-1330

  Zirn, B ^a   Grundmann, K ^b   Huppke, P ^c   Puthenparampil, J ^b   Wolburg, H ^b   Riess, O ^b   Müller, Ulrich ^a,d  

^a JUSTUS LIEBIG UNIVERSITY   (Germany)

^b UNIVERSITY OF TÜBINGEN   (Germany)

^c UNIVERSITY OF GÖTTINGEN   (Germany)

^d Institute for Human Genetics   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; GLUTAMINE;

ADULT; ARTICLE; CASE REPORT; CELL STRAIN HEK293; CONTROLLED STUDY; DNA SEQUENCE; DYSTONIA; FEMALE; GENE; GENE FUNCTION; GENE MUTATION; GENE OVEREXPRESSION; HUMAN; HUMAN CELL; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; TOR1A GENE;

ADOLESCENT; AMINO ACID SEQUENCE; CELL NUCLEUS; DEGLUTITION DISORDERS; DISEASE PROGRESSION; DYSTONIC DISORDERS; EXONS; FEMALE; HUMANS; MICROSCOPY, ELECTRON; MOLECULAR CHAPERONES; MOLECULAR SEQUENCE DATA; MUTATION; SEQUENCE ANALYSIS, DNA; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 56749153892     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp.2008.148270     Document Type: Article

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