Gene Locus : human-NDRG1
Mode of mutation : Natural mutant
Disease : Hereditary motor and sensory neuropathy, LOM Type
Summary :
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
Comment : p.Q185X Gln185Ter c.675C > T\; a Chinese man with a homozygous mutation
| Title : A novel homozygous NDRG1 mutation in a Chinese patient with Charcot-Marie-Tooth disease 4D - Chen_2018_J.Clin.Neurosci_53_231 |
| Author(s) : Chen B , Niu S , Chen N , Pan H , Wang X , Zhang Z |
| Ref : J Clin Neurosci , 53 :231 , 2018 |
| Abstract : Chen_2018_J.Clin.Neurosci_53_231 |
| ESTHER : Chen_2018_J.Clin.Neurosci_53_231 |
| PubMedSearch : Chen_2018_J.Clin.Neurosci_53_231 |
| PubMedID: 29724652 |
| Gene_locus related to this paper: human-NDRG1 |