KEGG   VARIANT: 284217v1
Entry
284217v1                      Variant                              
Name
LAMA1 mutation
Type
Loss of function
Gene
LAMA1  laminin subunit alpha 1 [KO:K05637]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 150320
Network
nt06548  Integrin signaling
Disease
H02464  Poretti-Boltshauser syndrome
Reference
PMID:25105227
  Authors
Aldinger KA, Mosca SJ, Tetreault M, Dempsey JC, Ishak GE, Hartley T, Phelps IG, Lamont RE, O'Day DR, Basel D, Gripp KW, Baker L, Stephan MJ, Bernier FP, Boycott KM, Majewski J, Parboosingh JS, Innes AM, Doherty D
  Title
Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy.
  Journal
Am J Hum Genet 95:227-34 (2014)
DOI:10.1016/j.ajhg.2014.07.007
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