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1.325 PRNP and APOE genetic polymorphisms in a Polish population of amyotrophic lateral sclerosis patients

✍ Scribed by M. Flirski; M. Sieruta; K. Hulas-Bigoszewska; B. Tomik; D. Zawislak; A. Slowik


Book ID
117752800
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
55 KB
Volume
13
Category
Article
ISSN
1353-8020

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## Abstract We report a patient with autosomal‐dominant amyotrophic lateral sclerosis (ALS) and a sequence variation in the __SOD1__ promoter region, located in the conserved TATA box motif (TATAAAβ†’TGTAAA). Functional promoter studies of this variant in an in vitro system showed moderate reduction