A Novel Compound Heterozygous Tyrosine Hydroxylase Mutation (p.R441P) with Complex Phenotype
نویسندگان
چکیده
منابع مشابه
A novel compound heterozygous tyrosine hydroxylase mutation (p.R441P) with complex phenotype.
Tyrosine hydroxylase (TH) is a tetrahydrobiopterin (BH4) dependent enzyme that catalyses the conversion of L-tyrosine to L-dopa, the rate-limiting step in the biosynthesis of dopamine. Autosomal recessive mutations in the TH gene cause impaired TH activity and are associated with phenotypes ranging from autosomal recessive dopa-responsive dystonia (DRD) to progressive infantile encephalopathy. ...
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ژورنال
عنوان ژورنال: Journal of Parkinson's Disease
سال: 2011
ISSN: 1877-718X,1877-7171
DOI: 10.3233/jpd-2011-11006