|
rs74315408
|
|
|
0.740 |
GeneticVariation |
BEFREE |
The familial prion disease associated with the V180I PrP gene mutation which harbors an abnormal PrP with similar electrophoretic profile might serve as a model for VPSPr.
|
29887135 |
2018 |
|
rs74315408
|
|
|
0.740 |
GeneticVariation |
BEFREE |
Valine-to-isoleucine substitution at codon 180 of the prion protein gene is only observed in patients with Creutzfeldt-Jakob disease and accounts for approximately half of all cases of genetic prion disease in Japan.
|
29382530 |
2018 |
|
rs74315408
|
|
|
0.740 |
GeneticVariation |
BEFREE |
Inherited prion diseases (IPDs), including genetic Creutzfeldt-Jakob disease (gCJD), account for 10-15% of cases of prion diseases and are associated with several pathogenic mutations, including P102L, V180I, and E200K, in the prion protein gene (PRNP).
|
27341347 |
2016 |
|
rs74315408
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Inherited prion diseases (IPDs), including genetic Creutzfeldt-Jakob disease (gCJD), account for 10-15% of cases of prion diseases and are associated with several pathogenic mutations, including P102L, V180I, and E200K, in the prion protein gene (PRNP).
|
27341347 |
2016 |
|
rs74315408
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Genetic Creutzfeldt-Jakob disease (CJD) due to V180I mutation in the prion protein gene (PRNP) is of great interest because of the differences from sporadic CJD and other genetic prion diseases in terms of clinical features, as well as pathological and biochemical findings.
|
24838726 |
2014 |
|
rs74315408
|
|
|
0.740 |
GeneticVariation |
BEFREE |
Genetic Creutzfeldt-Jakob disease (CJD) due to V180I mutation in the prion protein gene (PRNP) is of great interest because of the differences from sporadic CJD and other genetic prion diseases in terms of clinical features, as well as pathological and biochemical findings.
|
24838726 |
2014 |
|
rs74315408
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Rare V180I mutation in PRNP gene of a Chinese patient with Creutzfeldt-Jakob disease.
|
25482600 |
2014 |
|
rs74315408
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Pathogenic mutations such as 102P/L, 200E/K and 203V/I were observed in discriminated CJD patients group, and 180V/I and 232M/R were shown in suspected prion disease patients group and the KARE data group.
|
22561193 |
2013 |
|
rs74315408
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
We retrospectively analyzed age at onset and disease duration; the concentrations and incidences of 14-3-3 protein, tau protein, and abnormal prion protein (PrP(Sc)) in the CSF of 309 gPrD patients with P102L, P105L, E200K, V180I, or M232R mutations; and brain pathology in 32 autopsied patients.
|
23555862 |
2013 |
|
rs74315408
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Familial Creutzfeldt-Jakob disease with V180I mutation.
|
20592908 |
2010 |
|
rs74315408
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
An autopsy case of Creutzfeldt-Jakob disease with a V180I mutation of the PrP gene and Alzheimer-type pathology.
|
19703264 |
2010 |
|
rs74315408
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
V180I mutation of the prion protein gene associated with atypical PrPSc glycosylation.
|
17029785 |
2006 |
|
rs74315408
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Novel missense variants of prion protein in Creutzfeldt-Jakob disease or Gerstmann-Sträussler syndrome.
|
8461023 |
1993 |