KEGG   VARIANT: 3913v1
Entry
3913v1                      Variant                                
Name
LAMB2 mutation
Type
Loss of function
Gene
LAMB2  laminin subunit beta 2 [KO:K06243]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 150325
Network
nt06548  Integrin signaling
Disease
H00576  Pierson syndrome
H01657  Nephrotic syndrome
Reference
  Authors
Zenker M, Aigner T, Wendler O, Tralau T, Muntefering H, Fenski R, Pitz S, Schumacher V, Royer-Pokora B, Wuhl E, Cochat P, Bouvier R, Kraus C, Mark K, Madlon H, Dotsch J, Rascher W, Maruniak-Chudek I, Lennert T, Neumann LM, Reis A
  Title
Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities.
  Journal
Hum Mol Genet 13:2625-32 (2004)
DOI:10.1093/hmg/ddh284
Reference
  Authors
Hasselbacher K, Wiggins RC, Matejas V, Hinkes BG, Mucha B, Hoskins BE, Ozaltin F, Nurnberg G, Becker C, Hangan D, Pohl M, Kuwertz-Broking E, Griebel M, Schumacher V, Royer-Pokora B, Bakkaloglu A, Nurnberg P, Zenker M, Hildebrandt F
  Title
Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders.
  Journal
Kidney Int 70:1008-12 (2006)
DOI:10.1038/sj.ki.5001679
LinkDB

DBGET integrated database retrieval system