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High prevalence of carriers of variant c.1528G>C of HADHA gene causing long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) in the population of adult Kashubians from North Poland.

Bogusław NedoszytkoAlicja SiemińskaDominik StrapagielSławomir DąbrowskiMarcin SłomkaMarta Sobalska-KwapisBłażej MarciniakJolanta WierzbaJarosław SkokowskiMarcin FijałkowskiRoman NowickiLeszek Kalinowski
Published in: PloS one (2017)
Our study indicate described high frequency of c.1528G>C variant of HADHA gene in Kashubian population, suggesting the founder effect. For the first time we have found high frequency of rs71441018 in the South Poland Silesian population.
Keyphrases
  • high frequency
  • transcranial magnetic stimulation
  • copy number
  • genome wide
  • genome wide identification
  • young adults
  • dna methylation
  • replacement therapy
  • childhood cancer