KEGG   VARIANT: 37v1
Entry
37v1                      Variant                                  
Name
ACADVL deficiency
Type
Loss of function
Gene
ACADVL  very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform 1 precursor [KO:K09479]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 609575
Network
nt06020  beta-Oxidation in mitochondria
Disease
H00392  VLCAD deficiency
Reference
PMID:9973285
  Authors
Andresen BS, Olpin S, Poorthuis BJ, Scholte HR, Vianey-Saban C, Wanders R, Ijlst L, Morris A, Pourfarzam M, Bartlett K, Baumgartner ER, deKlerk JB, Schroeder LD, Corydon TJ, Lund H, Winter V, Bross P, Bolund L, Gregersen N
  Title
Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.
  Journal
Am J Hum Genet 64:479-94 (1999)
DOI:10.1086/302261
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