KEGG   VARIANT: 4014v1
Entry
4014v1                      Variant                                
Name
LOR mutation
Type
Loss of function
Gene
LORICRIN  loricrin cornified envelope precursor protein [KO:K10385]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 152445
Network
nt06545  Cornified envelope formation
Disease
H00714  Vohwinkel syndrome
Reference
PMID:8673107
  Authors
Maestrini E, Monaco AP, McGrath JA, Ishida-Yamamoto A, Camisa C, Hovnanian A, Weeks DE, Lathrop M, Uitto J, Christiano AM
  Title
A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome.
  Journal
Nat Genet 13:70-7 (1996)
DOI:10.1038/ng0596-70
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