KEGG   VARIANT: 3910v1
Entry
3910v1                      Variant                                
Name
LAMA4 mutation
Type
Loss of function
Gene
LAMA4  laminin subunit alpha 4 [KO:K06241]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600133
Network
nt06548  Integrin signaling
Disease
H00294  Dilated cardiomyopathy
Reference
  Authors
Knoll R, Postel R, Wang J, Kratzner R, Hennecke G, Vacaru AM, Vakeel P, Schubert C, Murthy K, Rana BK, Kube D, Knoll G, Schafer K, Hayashi T, Holm T, Kimura A, Schork N, Toliat MR, Nurnberg P, Schultheiss HP, Schaper W, Schaper J, Bos E, Den Hertog J, van Eeden FJ, Peters PJ, Hasenfuss G, Chien KR, Bakkers J
  Title
Laminin-alpha4 and integrin-linked kinase mutations cause human cardiomyopathy via simultaneous defects in cardiomyocytes and endothelial cells.
  Journal
Circulation 116:515-25 (2007)
DOI:10.1161/CIRCULATIONAHA.107.689984
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