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.S317RfsX4 Ser317ArgfsTer4 c.948delC
| Title : Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies - Dohrn_2017_J.Neurochem_143_507 |
| Author(s) : Dohrn MF , Glockle N , Mulahasanovic L , Heller C , Mohr J , Bauer C , Riesch E , Becker A , Battke F , Hortnagel K , Hornemann T , Suriyanarayanan S , Blankenburg M , Schulz JB , Claeys KG , Gess B , Katona I , Ferbert A , Vittore D , Grimm A , Wolking S , Schols L , Lerche H , Korenke GC , Fischer D , Schrank B , Kotzaeridou U , Kurlemann G , Drager B , Schirmacher A , Young P , Schlotter-Weigel B , Biskup S |
| Ref : Journal of Neurochemistry , 143 :507 , 2017 |
| Abstract : |
| PubMedSearch : Dohrn_2017_J.Neurochem_143_507 |
| PubMedID: 28902413 |
| Gene_locus related to this paper: human-NDRG1 |