Abstract:
: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.
journal_name
Neurosci Lettjournal_title
Neuroscience lettersauthors
Campdelacreu J,Ezquerra M,Muñoz E,Oliva R,Tolosa Edoi
10.1016/s0304-3940(03)00105-8keywords:
subject
Has Abstractpub_date
2003-04-10 00:00:00pages
158-60issue
2eissn
0304-3940issn
1872-7972pii
S0304394003001058journal_volume
340pub_type
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