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A novel PANK2 gene mutation: clinical and molecular characteristics of patients short communication

Beata Kazek1, Ewa Jamroz, Martin Gencik

  • 1Department of Child Neurology, Medical University of Silesia, Katowice, Poland. beakazek@op.pl

Journal of Child Neurology
|November 17, 2007
PubMed

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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...