KEGG   VARIANT: 10157v1
Entry
10157v1                      Variant                               
Name
AASS deficiency
Gene
AASS  aminoadipate-semialdehyde synthase [KO:K14157]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 605113
Network
nt06036  Lysine degradation
Disease
H00188  Hyperlysinemia
H01242  Saccharopinuria
Reference
PMID:10775527
  Authors
Sacksteder KA, Biery BJ, Morrell JC, Goodman BK, Geisbrecht BV, Cox RP, Gould SJ, Geraghty MT
  Title
Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia.
  Journal
Am J Hum Genet 66:1736-43 (2000)
DOI:10.1086/302919
LinkDB

DBGET integrated database retrieval system