Two previously unrecognized splicing mutations of GCH1 in Dopa-responsive dystonia: Exon skipping and one base insertion

Neurogenetics

Volumn 1, Issue 2, 1997, Pages 125-127

  Weber, Y ^a   Steinberger, D ^a   Deuschl, G ^b   Benecke, R ^c   Muller U ^a  

^a JUSTUS LIEBIG UNIVERSITY   (Germany)

^b UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^c UNIVERSITY OF ROSTOCK   (Germany)

Author keywords

Dopa responsive dystonia; DRD; GCH1; GTP cyclohydrolase I; HPD; Splicing mutation

Indexed keywords

ANTIPARKINSON AGENT; DNA; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; LEVODOPA;

ADOLESCENT; ADULT; ALTERNATIVE RNA SPLICING; AMINO ACID SEQUENCE; ARTICLE; CASE REPORT; CHEMISTRY; CHILD; DYSTONIA; EXON; FEMALE; FOLLOW UP; FRAMESHIFT MUTATION; GENETICS; HUMAN; MUTATION; NUCLEOTIDE SEQUENCE; POINT MUTATION; PRESCHOOL CHILD; SINGLE STRAND CONFORMATION POLYMORPHISM;

ADOLESCENT; ADULT; ALTERNATIVE SPLICING; AMINO ACID SEQUENCE; ANTIPARKINSON AGENTS; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; DNA; DNA MUTATIONAL ANALYSIS; DYSTONIA; EXONS; FEMALE; FOLLOW-UP STUDIES; FRAMESHIFT MUTATION; GTP CYCLOHYDROLASE; HUMANS; LEVODOPA; MUTATION; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 0031215460     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100480050018     Document Type: Article

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