KEGG   VARIANT: 4597v1
Entry
4597v1                      Variant                                
Name
MVD deficiency
Type
Loss of function
Gene
MVD  mevalonate diphosphate decarboxylase [KO:K01597]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 603236
Network
nt06034  Cholesterol biosynthesis
Disease
H01933  Porokeratosis
Reference
  Authors
Zhang Z, Li C, Wu F, Ma R, Luan J, Yang F, Liu W, Wang L, Zhang S, Liu Y, Gu J, Hua W, Fan M, Peng H, Meng X, Song N, Bi X, Gu C, Zhang Z, Huang Q, Chen L, Xiang L, Xu J, Zheng Z, Jiang Z
  Title
Genomic variations of the mevalonate pathway in porokeratosis.
  Journal
Elife 4:e06322 (2015)
DOI:10.7554/eLife.06322
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