KEGG   VARIANT: 3655v1
Entry
3655v1                      Variant                                
Name
ITGA6 mutation
Type
Loss of function
Gene
ITGA6  integrin subunit alpha 6 [KO:K06485]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 147556
Network
nt06539  Cytoskeleton in muscle cells
Disease
H00586  Epidermolysis bullosa, junctional
Reference
  Authors
Has C, Bauer JW, Bodemer C, Bolling MC, Bruckner-Tuderman L, Diem A, Fine JD, Heagerty A, Hovnanian A, Marinkovich MP, Martinez AE, McGrath JA, Moss C, Murrell DF, Palisson F, Schwieger-Briel A, Sprecher E, Tamai K, Uitto J, Woodley DT, Zambruno G, Mellerio JE
  Title
Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility.
  Journal
Br J Dermatol 183:614-627 (2020)
DOI:10.1111/bjd.18921
Reference
  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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