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.R234Q Arg234Gln c.701G>A\; homozygous missense variant
| Title : Identification and functional characterization of two missense mutations in NDRG1 associated with Charcot-Marie-Tooth disease type 4D - Li_2017_Hum.Mutat_38_1569 |
| Author(s) : Li LX , Liu GL , Liu ZJ , Lu C , Wu ZY |
| Ref : Hum Mutat , 38 :1569 , 2017 |
| Abstract : Li_2017_Hum.Mutat_38_1569 |
| ESTHER : Li_2017_Hum.Mutat_38_1569 |
| PubMedSearch : Li_2017_Hum.Mutat_38_1569 |
| PubMedID: 28776325 |
| Gene_locus related to this paper: human-NDRG1 |