Dopamine beta-hydroxylase deficiency

Orphanet Journal of Rare Diseases

Volumn 1, Issue 1, 2006, Pages

  Senard, Jean Michel ^a   Rouet, Philippe ^b  

^a INSERM   (France)

^b CHU RANGUEIL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE;

EID: 34248151066     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-1-7     Document Type: Review

References (16)

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3. DBH gene variants that cause low plasma dopamine β hydroxylase with or without a severe orthostatic syndrome. J Deinum GCH Steengergen-Spanjers M Jansen F Boomsma JWM Lenders FJ van Ittersum N Hück LP van den Heuvel RA Wevers, J Med Genet 2004 41 e38 10.1136/jmg.2003.009282 15060114
4. The primary structure of human dopamine-beta-hydroxylase: insights into the relationship between the soluble and the membrane-bound forms of the enzyme. A Lamouroux A Vigny N Faucon Biguet MC Darmon R Franck JP Henry J Maleet, EMBO J 1987 6 3931 3937 3443096
5. National Center for Biotechnology Information, http://www.ncbi.nlm.nih. gov/entrez/query.fcgi?db=gene&cmd=Retrieve&dopt=Graphics&list_uids= 1621
6. Mutations in the dopamine β-hydroxylase gene are associated with human norepinephrine deficiency. CH Kim CP Zabetian JF Cubells S Cho I Biaggioni BM Cohen D Robertson KS Kim, Am J Med Genet 2002 108 140 147 10.1002/ajmg.10196 11857564
7. A revised allele frequency estimate and haplotype analysis of the DBH deficiency mutation IVS1+2T°C in African- and European-Americans. CP Zabetian R Romero D Robertson S Sharma JF Padbury H Kuivaniemi KS Kim CH Kim MD Köhnke HR Kranzler J Gelernter JF Cubells, Am J Med Genet 2003 123A 190 192 10.1002/ajmg.a.20300
8. Human genetics of plasma dopamine β-hydroxylase activity: applications to research in psychiatry and neurology. JF Cubells CP Zabetian, Psychopharmacology 2004 174 463 476 10.1007/s00213-004-1840-8 15088079
9. Norepinephrine-deficient mice lack responses to antidepressant drugs, including selective serotonin reuptake inhibitors. JF Cryan OF O'Leary SH Jin JC Friedland M Ouyang BR Hirsch ME Page A Dalvi SA Thomas I Lucki, PNAS 2004 101 8186 8191 15148402 10.1073/pnas.0401080101
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