KEGG   VARIANT: 3691v1
Entry
3691v1                      Variant                                
Name
ITGB4 mutation
Type
Loss of function
Gene
ITGB4  integrin subunit beta 4 [KO:K06525]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 147557
Network
nt06539  Cytoskeleton in muscle cells
Disease
H00586  Epidermolysis bullosa, junctional
Reference
PMID:12485428
  Authors
Jonkman MF, Pas HH, Nijenhuis M, Kloosterhuis G, Steege G
  Title
Deletion of a cytoplasmic domain of integrin beta4 causes epidermolysis bullosa simplex.
  Journal
J Invest Dermatol 119:1275-81 (2002)
DOI:10.1046/j.1523-1747.2002.19609.x
Reference
PMID:32973163
  Authors
Bardhan A, Bruckner-Tuderman L, Chapple ILC, Fine JD, Harper N, Has C, Magin TM, Marinkovich MP, Marshall JF, McGrath JA, Mellerio JE, Polson R, Heagerty AH
  Title
Epidermolysis bullosa.
  Journal
Nat Rev Dis Primers 6:78 (2020)
DOI:10.1038/s41572-020-0210-0
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