title: A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome.
abstract: 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.
authors: Universitäts-Kinderklinik, Bochum, Germany.
authors: B
authors: B
authors: Lüdecke
authors: B
authors: B
authors: Dworniczak
authors: K
authors: K
authors: Bartholomé
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D002648:Child; D002940:Circadian Rhythm; D017931:DNA Primers; D004421:Dystonia / Q000201:enzymology / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D017354:Point Mutation; D013577:Syndrome; D014446:Tyrosine 3-Monooxygenase / Q000235:genetics*
chemical_list: D017931:DNA Primers; D014446:Tyrosine 3-Monooxygenase