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 :
Mutation, IVS8-1G>A (g.2290787G>A), which affects the splice-acceptor site of IVS8 and results in the skipping of exon 9 phenotype similar to R148X_human-NDRG1
| Title : Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease - Hunter_2003_Hum.Mutat_22_129 |
| Author(s) : Hunter M , Bernard R , Freitas E , Boyer A , Morar B , Martins IJ , Tournev I , Jordanova A , Guergelcheva V , Ishpekova B , Kremensky I , Nicholson G , Schlotter B , Lochmuller H , Voit T , Colomer J , Thomas PK , Levy N , Kalaydjieva L |
| Ref : Hum Mutat , 22 :129 , 2003 |
| Abstract : Hunter_2003_Hum.Mutat_22_129 |
| ESTHER : Hunter_2003_Hum.Mutat_22_129 |
| PubMedSearch : Hunter_2003_Hum.Mutat_22_129 |
| PubMedID: 12872253 |
| Gene_locus related to this paper: human-NDRG1 |