Dopamine beta-hydroxylase deficiency
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pharmacology (medical),Genetics(clinical),General Medicine
Link
http://link.springer.com/content/pdf/10.1186/1750-1172-1-7.pdf
Reference16 articles.
1. Robertson D, Goldberg MR, Hollister AS, Onrot J, Wiley R, Thompson JG, Robertson RM: Isolated failure of autonomic noradrenergic neurotransmission. Evidence for impaired β-hydroxylation of dopamine. New Engl J Med. 1986, 314: 1494-1497.
2. Thomas SA, Matsumoto AM, Palmiter RD: Noradrenaline is essential for mouse foetal development. Nature. 1995, 374: 643-646. 10.1038/374643a0.
3. Deinum J, Steengergen-Spanjers GCH, Jansen M, Boomsma F, Lenders JWM, van Ittersum FJ, Hück N, van den Heuvel LP, Wevers RA: DBH gene variants that cause low plasma dopamine β hydroxylase with or without a severe orthostatic syndrome. J Med Genet. 2004, 41: e38-10.1136/jmg.2003.009282.
4. Lamouroux A, Vigny A, Faucon Biguet N, Darmon MC, Franck R, Henry JP, Maleet J: The primary structure of human dopamine-beta-hydroxylase: insights into the relationship between the soluble and the membrane-bound forms of the enzyme. EMBO J. 1987, 6: 3931-3937.
5. National Center for Biotechnology Information: [ http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=1621 ]
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