KEGG   VARIANT: 3067v1
Entry
3067v1                      Variant                                
Name
HDC deficiency
Type
Loss of function
Gene
HDC  histidine decarboxylase isoform 1 [KO:K01590]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 142704
Network
nt06037  Histidine metabolism
nt06544  Neuroactive ligand signaling
Disease
H00862  Tourette syndrome
Reference
PMID:20445167
  Authors
Ercan-Sencicek AG, Stillman AA, Ghosh AK, Bilguvar K, O'Roak BJ, Mason CE, Abbott T, Gupta A, King RA, Pauls DL, Tischfield JA, Heiman GA, Singer HS, Gilbert DL, Hoekstra PJ, Morgan TM, Loring E, Yasuno K, Fernandez T, Sanders S, Louvi A, Cho JH, Mane S, Colangelo CM, Biederer T, Lifton RP, Gunel M, State MW
  Title
L-histidine decarboxylase and Tourette's syndrome.
  Journal
N Engl J Med 362:1901-8 (2010)
DOI:10.1056/NEJMoa0907006
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