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.H247TfsX74 His247ThrfsTer74 c.739delC\; homozygous frameshift mutation
| Title : A novel NDRG1 mutation in a non-Romani patient with CMT4D\/HMSN-Lom - Piscosquito_2017_J.Peripher.Nerv.Syst_22_47 |
| Author(s) : Piscosquito G , Magri S , Saveri P , Milani M , Ciano C , Farina L , Taroni F , Pareyson D |
| Ref : J Peripher Nerv Syst , 22 :47 , 2017 |
| Abstract : Piscosquito_2017_J.Peripher.Nerv.Syst_22_47 |
| ESTHER : Piscosquito_2017_J.Peripher.Nerv.Syst_22_47 |
| PubMedSearch : Piscosquito_2017_J.Peripher.Nerv.Syst_22_47 |
| PubMedID: 27982524 |
| Gene_locus related to this paper: human-NDRG1 |