Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene

Human Molecular Genetics

Volumn 4, Issue 7, 1995, Pages 1209-1212

  Knappskog, Per M ^a   Flatmark, Torgeir ^a   Mallet, Jacques ^b   Ludecke, Barbara ^c   Bartholomé, Klaus ^c  

^a UNIVERSITY OF BERGEN   (Norway)

^b CNRS   (France)

^c RUHR UNIVERSITY BOCHUM   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

LEVODOPA; TYROSINE; TYROSINE 3 MONOOXYGENASE;

ARTICLE; DOPAMINE METABOLISM; DYSTONIA; ENZYME KINETICS; GENETIC RECOMBINATION; GENETIC TRANSCRIPTION; HOMOZYGOTE; HUMAN; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; RECESSIVE INHERITANCE; RNA TRANSLATION;

ANIMAL; BASE SEQUENCE; CODON; DYSTONIA; ESCHERICHIA COLI; GENES, RECESSIVE; HOMOZYGOTE; HUMAN; LEVODOPA; MOLECULAR SEQUENCE DATA; MUTAGENESIS, SITE-DIRECTED; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; RABBITS; RECOMBINANT PROTEINS; SUPPORT, NON-U.S. GOV'T; TRANSCRIPTION, GENETIC; TRANSLATION, GENETIC; TYROSINE 3-MONOOXYGENASE;

EID: 0029049876     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/4.7.1209     Document Type: Article

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