KEGG   VARIANT: 4359v2
Entry
4359v2                      Variant                                
Name
MPZ gain-of-function mutation
Type
Gain of function
Gene
MPZ  myelin protein zero [KO:K06770]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 159440
Network
nt06546  IgSF CAM signaling
Disease
H00264  Charcot-Marie-Tooth disease
Reference
PMID:22275255
  Authors
Maeda MH, Mitsui J, Soong BW, Takahashi Y, Ishiura H, Hayashi S, Shirota Y, Ichikawa Y, Matsumoto H, Arai M, Okamoto T, Miyama S, Shimizu J, Inazawa J, Goto J, Tsuji S
  Title
Increased gene dosage of myelin protein zero causes Charcot-Marie-Tooth disease.
  Journal
Ann Neurol 71:84-92 (2012)
DOI:10.1002/ana.22658
LinkDB

DBGET integrated database retrieval system