Variant: rs121917763 

    present in Gene: TH
    present in Chromosome: 11
    Position on Chromosome: 2167896
    Alleles of this Variant: A/G

rs121917763 in TH gene and DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) PMID 8817341 1996 Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene.

PMID 22815559 2012 Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency.

PMID 20430833 2010 Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis.

PMID 7814018 1995 A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome.

PMID 23762320 2013 GTP cyclohydrolase I and tyrosine hydroxylase gene mutations in familial and sporadic dopa-responsive dystonia patients.

PMID 9613851 1998 Association study of structural mutations of the tyrosine hydroxylase gene with schizophrenia and Parkinson's disease.

PMID 20056467 2010 Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese.

PMID 9703425 1998 A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population.

PMID 20198643 2010 Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation.

PMID 24753243 2014 Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia.

PMID 18058633 2007 Tyrosine hydroxylase deficiency presenting with a biphasic clinical course.

PMID 8528210 1995 Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene.

PMID 16049992 2005 Pre- and postnatal diagnosis of tyrosine hydroxylase deficiency.

PMID 21940685 2012 A new tyrosine hydroxylase genotype associated with early-onset severe encephalopathy.

PMID 10585338 1999 Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency.

PMID 15505183 2004 Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency.

PMID 15747353 2005 Levodopa-responsive infantile parkinsonism due to a novel mutation in the tyrosine hydroxylase gene and exacerbation by viral infections.

PMID 17696123 2007 Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene.

PMID 11196107 2000 Tyrosine hydroxylase deficiency unresponsive to L-dopa treatment with unusual clinical and biochemical presentation.

PMID 11246459 2000 Four novel mutations in the tyrosine hydroxylase gene in patients with infantile parkinsonism.

PMID 23480488 2013 Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders.

PMID 22264700 2012 Tyrosine hydroxylase deficiency in Taiwanese infants.

rs121917763 in TH gene and Dystonia PMID 8817341 1996 Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene.

PMID 19282209 2009 Tyrosine hydroxylase deficiency with severe clinical course.

PMID 2019643 1991 Magnetic stimulation of the nervous system.

PMID 20430833 2010 Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis.

PMID 23480488 2013 Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders.

PMID 12891655 2003 Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia.

PMID 24753243 2014 Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia.