KEGG   VARIANT: 1282v2
Entry
1282v2                      Variant                                
Name
COL4A1 mutation
Gene
COL4A1  collagen type IV alpha 1 chain [KO:K06237]
Organism
hsa_var Human gene variants (Homo sapiens)
Network
nt06539  Cytoskeleton in muscle cells
Disease
H02718  Autosomal dominant pontine microangiopathy and leukoencephalopathy
Reference
PMID:37953842
  Authors
Kikumoto M, Kurashige T, Ohshita T, Kume K, Kikumoto O, Nezu T, Aoki S, Ochi K, Morino H, Nomura E, Yamashita H, Kaneko M, Maruyama H, Kawakami H
  Title
'Raisin bread sign' feature of pontine autosomal dominant microangiopathy and leukoencephalopathy.
  Journal
Brain Commun 5:fcad281 (2023)
DOI:10.1093/braincomms/fcad281
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