KEGG   VARIANT: 3918v1
Entry
3918v1                      Variant                                
Name
LAMC2 mutation
Type
Loss of function
Gene
LAMC2  laminin subunit gamma 2 [KO:K06246]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 150292
Network
nt06548  Integrin signaling
Disease
H00586  Epidermolysis bullosa, junctional
Reference
PMID:8012393
  Authors
Pulkkinen L, Christiano AM, Airenne T, Haakana H, Tryggvason K, Uitto J
  Title
Mutations in the gamma 2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa.
  Journal
Nat Genet 6:293-7 (1994)
DOI:10.1038/ng0394-293
Reference
PMID:8012394
  Authors
Aberdam D, Galliano MF, Vailly J, Pulkkinen L, Bonifas J, Christiano AM, Tryggvason K, Uitto J, Epstein EH Jr, Ortonne JP, et al.
  Title
Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma 2 subunit of nicein/kalinin (LAMININ-5).
  Journal
Nat Genet 6:299-304 (1994)
DOI:10.1038/ng0394-299
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