KEGG   VARIANT: 55612v1
Entry
55612v1                      Variant                               
Name
FERMT1 mutation
Type
Loss of function
Gene
FERMT1  FERM domain containing kindlin 1 [KO:K17082]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 607900
Network
nt06548  Integrin signaling
Disease
H00588  Kindler syndrome
Reference
  Authors
Siegel DH, Ashton GH, Penagos HG, Lee JV, Feiler HS, Wilhelmsen KC, South AP, Smith FJ, Prescott AR, Wessagowit V, Oyama N, Akiyama M, Al Aboud D, Al Aboud K, Al Githami A, Al Hawsawi K, Al Ismaily A, Al-Suwaid R, Atherton DJ, Caputo R, Fine JD, Frieden IJ, Fuchs E, Haber RM, Harada T, Kitajima Y, Mallory SB, Ogawa H, Sahin S, Shimizu H, Suga Y, Tadini G, Tsuchiya K, Wiebe CB, Wojnarowska F, Zaghloul AB, Hamada T, Mallipeddi R, Eady RA, McLean WH, McGrath JA, Epstein EH
  Title
Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome.
  Journal
Am J Hum Genet 73:174-87 (2003)
DOI:10.1086/376609
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