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 KalinowskiPublished 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.