[1]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3 AND 4).
DOI=10.1038/326707a0; PubMed=2882428 [NCBI, ExPASy, EBI, Israel, Japan]
Grima B.,
Lamouroux A.,
Boni C.,
Julien J.-F.,
Javoy-Agid F.,
Mallet J.;
"A single human gene encoding multiple tyrosine hydroxylases with different predicted functional characteristics.";
Nature 326:707-711(1987).
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[2]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
DOI=10.1093/nar/15.16.6733; PubMed=2888085 [NCBI, ExPASy, EBI, Israel, Japan]
Kobayashi K.,
Kaneda N.,
Ichinose H.,
Kishi F.,
Nakazawa A.,
Kurosawa Y.,
Fujita K.,
Nagatsu T.;
"Isolation of a full-length cDNA clone encoding human tyrosine hydroxylase type 3.";
Nucleic Acids Res. 15:6733-6733(1987).
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[3]
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NUCLEOTIDE SEQUENCE [MRNA] OF 1-94 (ISOFORM 3).
DOI=10.1016/0006-291X(87)90742-X; PubMed=2887169 [NCBI, ExPASy, EBI, Israel, Japan]
Kaneda N.,
Kobayashi K.,
Ichinose H.,
Kishi F.,
Nakazawa A.,
Kurosawa Y.,
Fujita K.,
Nagatsu T.;
"Isolation of a novel cDNA clone for human tyrosine hydroxylase: alternative RNA splicing produces four kinds of mRNA from a single gene.";
Biochem. Biophys. Res. Commun. 146:971-975(1987).
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[4]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS 1; 2; 3 AND 4).
PubMed=2902075 [NCBI, ExPASy, EBI, Israel, Japan]
Kobayashi K.,
Kaneda N.,
Ichinose H.,
Kishi F.,
Nakazawa A.,
Kurosawa Y.,
Fujita K.,
Nagatsu T.;
"Structure of the human tyrosine hydroxylase gene: alternative splicing from a single gene accounts for generation of four mRNA types.";
J. Biochem. 103:907-912(1988).
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[5]
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PARTIAL NUCLEOTIDE SEQUENCE [GENOMIC DNA].
PubMed=2892893 [NCBI, ExPASy, EBI, Israel, Japan]
le Bourdelles B.,
Boularand S.,
Boni C.,
Horellou P.,
Dumas S.,
Grima B.,
Mallet J.;
"Analysis of the 5' region of the human tyrosine hydroxylase gene: combinatorial patterns of exon splicing generate multiple regulated tyrosine hydroxylase isoforms.";
J. Neurochem. 50:988-991(1988).
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[6]
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NUCLEOTIDE SEQUENCE [MRNA] OF 1-30.
PubMed=2896667 [NCBI, ExPASy, EBI, Israel, Japan]
Ginns E.I.,
Rehavi M.,
Martin B.M.,
Weller M.,
O'Malley K.L.,
Lamarca M.E.,
McAllister C.G.,
Paul S.M.;
"Expression of human tyrosine hydroxylase cDNA in invertebrate cells using a baculovirus vector.";
J. Biol. Chem. 263:7406-7410(1988).
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[7]
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VARIANT SEGAWA SYNDROME LYS-412.
DOI=10.1007/BF00225091; PubMed=7814018 [NCBI, ExPASy, EBI, Israel, Japan]
Luedecke B.,
Dworniczak B.,
Bartholome K.;
"A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome.";
Hum. Genet. 95:123-125(1995).
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[8]
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VARIANT MET-112.
DOI=10.1007/BF00209496; PubMed=7789962 [NCBI, ExPASy, EBI, Israel, Japan]
Luedecke B.,
Bartholome K.;
"Frequent sequence variant in the human tyrosine hydroxylase gene.";
Hum. Genet. 95:716-716(1995).
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[9]
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CHARACTERIZATION OF VARIANT SEGAWA SYNDROME LYS-412.
DOI=10.1093/hmg/4.7.1209; PubMed=8528210 [NCBI, ExPASy, EBI, Israel, Japan]
Knappskog P.M.,
Flatmark T.,
Mallet J.,
Luedecke B.,
Bartholome K.;
"Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene.";
Hum. Mol. Genet. 4:1209-1212(1995).
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[10]
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CHARACTERIZATION OF VARIANT SEGAWA SYNDROME PRO-236.
DOI=10.1093/hmg/5.7.1023; PubMed=8817341 [NCBI, ExPASy, EBI, Israel, Japan]
Luedecke B.,
Knappskog P.M.,
Clayton P.T.,
Surtees R.A.H.,
Clelland J.D.,
Heales S.J.R.,
Brand M.P.,
Bartholome K.,
Flatmark T.;
"Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene.";
Hum. Mol. Genet. 5:1023-1028(1996).
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[11]
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VARIANT SEGAWA SYNDROME PRO-236, AND VARIANT MET-112.
DOI=10.1002/(SICI)1096-8628(19980328)81:2<131::AID-AJMG2>3.3.CO;2-X; PubMed=9613851 [NCBI, ExPASy, EBI, Israel, Japan]
Kunugi H.,
Kawada Y.,
Hattori M.,
Ueki A.,
Otsuka M.,
Nanko S.;
"Association study of structural mutations of the tyrosine hydroxylase gene with schizophrenia and Parkinson's disease.";
Am. J. Med. Genet. 81:131-133(1998).
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[12]
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VARIANT MET-499.
DOI=10.1002/(SICI)1096-8628(19980907)81:5<388::AID-AJMG7>3.3.CO;2-F; PubMed=9754624 [NCBI, ExPASy, EBI, Israel, Japan]
Ishiguro H.,
Arinami T.,
Saito T.,
Akazawa S.,
Enomoto M.,
Mitushio H.,
Fujishiro H.,
Tada K.,
Akimoto Y.,
Mifune H.,
Shiozuka S.,
Hamaguchi H.,
Toru M.,
Shibuya H.;
"Systematic search for variations in the tyrosine hydroxylase gene and their associations with schizophrenia, affective disorders, and alcoholism.";
Am. J. Med. Genet. 81:388-396(1998).
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[13]
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VARIANT SEGAWA SYNDROME HIS-233.
DOI=10.1007/s004390050756; PubMed=9703425 [NCBI, ExPASy, EBI, Israel, Japan]
van den Heuvel L.P.W.J.,
Luiten B.,
Smeitink J.A.M.,
de Rijk-van Andel J.F.,
Hyland K.,
Steenbergen-Spanjers G.C.H.,
Janssen R.J.T.,
Wevers R.A.;
"A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population.";
Hum. Genet. 102:644-646(1998).
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[14]
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VARIANT MET-112.
DOI=10.1038/10290; PubMed=10391209 [NCBI, ExPASy, EBI, Israel, Japan]
Cargill M.,
Altshuler D.,
Ireland J.,
Sklar P.,
Ardlie K.,
Patil N.,
Shaw N.,
Lane C.R.,
Lim E.P.,
Kalyanaraman N.,
Nemesh J.,
Ziaugra L.,
Friedland L.,
Rolfe A.,
Warrington J.,
Lipshutz R.,
Daley G.Q.,
Lander E.S.;
"Characterization of single-nucleotide polymorphisms in coding regions of human genes.";
Nat. Genet. 22:231-238(1999).
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[15]
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ERRATUM.
Cargill M.,
Altshuler D.,
Ireland J.,
Sklar P.,
Ardlie K.,
Patil N.,
Shaw N.,
Lane C.R.,
Lim E.P.,
Kalyanaraman N.,
Nemesh J.,
Ziaugra L.,
Friedland L.,
Rolfe A.,
Warrington J.,
Lipshutz R.,
Daley G.Q.,
Lander E.S.;
Nat. Genet. 23:373-373(1999).
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[16]
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VARIANTS SEGAWA SYNDROME PRO-276; MET-314; HIS-337 AND MET-494.
DOI=10.1017/S0003480000007922; PubMed=11246459 [NCBI, ExPASy, EBI, Israel, Japan]
Swaans R.J.M.,
Rondot P.,
Renier W.O.,
Van Den Heuvel L.P.W.J.,
Steenbergen-Spanjers G.C.H.,
Wevers R.A.;
"Four novel mutations in the tyrosine hydroxylase gene in patients with infantile parkinsonism.";
Ann. Hum. Genet. 64:25-31(2000).
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