Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: EC:3.1.30.2 (
endonuclease
)
18,621
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
The nuclear factor kappa B inducing kinase gene (NIK) is located near the region of the haplotype associated with
progressive supranuclear palsy
(
PSP
) in chromosome 17q. We have analysed the coding region of the NIK gene in
PSP
patients through single strand conformation polymorphism and direct sequencing, in order to investigate the possible existence of pathogenic mutations. A change in exon 15 consisting of a G/C variation in position 2839 was found. This change was then analysed through restriction
endonuclease
HphI in 40
PSP
samples and 35 control samples, but no differences in allelic frequency were found between the
PSP
and control groups. Our results do not support a pathogenic role of the NIK gene in
PSP
.
...
PMID:Mutational study of the nuclear factor kappa B inducing kinase gene in patients with progressive supranuclear palsy. 1266 60
