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Chapter 11,031

Mutations in the gene encoding human persyn are not associated with amyotrophic lateral sclerosis or familial Parkinson's disease

Flowers, J.M.; Leigh, P.N.; Davies, A.M.; Ninkina, N.N.; Buchman, V.L.; Vaughan, J.; Wood, N.W.; Powell, J.F.

Neuroscience Letters 274(1): 21-24

1999

ISSN/ISBN: 0304-3940
PMID: 10530510
DOI: 10.1016/s0304-3940(99)00673-4
Accession: 011030838
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The synucleins are a family of small proteins expressed in nervous tissue, which have been implicated in neurodegeneration. Using single strand conformation polymorphism analysis we screened for polymorphisms and mutations in the gene encoding human persyn, a recently discovered member of the synuclein family, in controls, patients with sporadic or familial amyotrophic lateral sclerosis (ALS) or familial Parkinson's disease (PD). Six polymorphisms in the genomic sequence of persyn were detected; A590C (5' untranslated region), G1943C (exon 3), G2049A (intron 3), T4502C (intron 3), T4552A (exon 4) and C5019T (3' untranslated region). However no associations with disease state were found in our sample group.

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