Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene

Human Molecular Genetics

Volumn 5, Issue 7, 1996, Pages 1023-1028

  Lüdecke, Barbara ^a   Knappskog, Per M ^b   Clayton, Peter T ^c   Surtees, Robert A H ^c   Clelland, James D ^c   Heales, Simon J R ^d   Brand, Michael P ^d   Bartholomé, Klaus ^a   Flatmark, Torgeir ^b  

^a RUHR UNIVERSITY BOCHUM   (Germany)

^b UNIVERSITY OF BERGEN   (Norway)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; HOMOVANILLIC ACID; LEVODOPA; MUTANT PROTEIN; RECOMBINANT PROTEIN; TYROSINE 3 MONOOXYGENASE;

ARTICLE; CASE REPORT; CEREBROSPINAL FLUID LEVEL; CONTROLLED STUDY; DNA SEQUENCE; DOPAMINE METABOLISM; ENZYME ACTIVITY; ESCHERICHIA COLI; FEMALE; GENE EXPRESSION; HETEROZYGOTE; HUMAN; MISSENSE MUTATION; PARKINSONISM; POINT MUTATION; PRIORITY JOURNAL; RECESSIVE INHERITANCE; SITE DIRECTED MUTAGENESIS;

EID: 0030035985     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.7.1023     Document Type: Article

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