KEGG   VARIANT: 3034v1
Entry
3034v1                      Variant                                
Name
HAL deficiency
Type
Loss of function
Gene
HAL  histidine ammonia-lyase [KO:K01745]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 609457
Network
nt06037  Histidine metabolism
nt06545  Cornified envelope formation
Disease
H00171  Histidinemia
Reference
PMID:15806399
  Authors
Kawai Y, Moriyama A, Asai K, Coleman-Campbell CM, Sumi S, Morishita H, Suchi M
  Title
Molecular characterization of histidinemia: identification of four missense mutations in the histidase gene.
  Journal
Hum Genet 116:340-6 (2005)
DOI:10.1007/s00439-004-1232-5
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