Article
A shared haplotype indicates a founder event in Unverricht-Lundborg disease patients from Serbia.
The International journal of neuroscience - 1 Feb 2014
Kecmanović Miljana, Ristić Aleksandar J, Ercegovac Marko, Keckarević-Marković Milica, Keckarević Dušan, Sokić Dragoslav, Romac Stanka
Abstract excerpt
Unverricht-Lundborg disease (ULD) is an autosomal recessive disorder caused by dodecamer repeat expansion in the promoter region of the cystatin B (CSTB) gene in approximately 90% of the disease alleles worldwide. This study presents results of genetic findings in four Serbian unrelated patients with clinical and molecular diagnosis of ULD. Using newly established PCR protocol with betaine, we detected a...
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