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A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome.
Universitäts-Kinderklinik, Bochum, Germany.
We have examined the molecular basis of Segawa's syndrome in six families with seven affected children. In one family two siblings with this disease carried a point mutation in exon 11 of the tyrosine hydroxylase gene, resulting in an amino acid exchange of Gln381 to Lys381. These results suggest that a change in tyrosine hydroxylase causes this form of Segawa's syndrome.
PMID: 7814018 [PubMed - indexed for MEDLINE]
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Cited by 5 PubMed Central articles
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A murine model for human sepiapterin-reductase deficiency.
Yang S, Lee YJ, Kim JM, Park S, Peris J, Laipis P, Park YS, Chung JH, Oh SP.
Am J Hum Genet. 2006 Apr; 78(4):575-87. Epub 2006 Jan 31.
[Am J Hum Genet. 2006]
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Effects of mutations in tyrosine hydroxylase associated with progressive dystonia on the activity and stability of the protein.
Royo M, Daubner SC, Fitzpatrick PF.
Proteins. 2005 Jan 1; 58(1):14-21.
[Proteins. 2005]
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Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr disease).
Geschwind DH, Loginov M, Stern JM.
Am J Hum Genet. 1999 Sep; 65(3):764-72.
[Am J Hum Genet. 1999]
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