A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population

Human Genetics

Volumn 102, Issue 6, 1998, Pages 644-646

  Van den Heuvel, Lambert P W J ^a   Luiten, Bernadette ^a   Smeitink, Jan A M ^a   De Rijk van Andel, Johanneke F ^b   Hyland, Keith ^c   Steenbergen Spanjers, Gerry C H ^a   Janssen, Riet J T ^a   Wevers, Ron A ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b Ignatius Hospital   (Netherlands)

^c BAYLOR UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; HISTIDINE; LEVODOPA; TYROSINE 3 MONOOXYGENASE;

AMINO ACID SUBSTITUTION; ARTICLE; DYSTONIA; EXON; HUMAN; MISSENSE MUTATION; NETHERLANDS; POINT MUTATION; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

CHROMOSOMES, HUMAN, PAIR 11; DENMARK; DYSTONIA; GENES, RECESSIVE; HUMANS; LEVODOPA; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; TYROSINE 3-MONOOXYGENASE;

EID: 0031901965     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050756     Document Type: Article

References (10)

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