EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH) - Porto, Graça; Brissot, Pierre; Swinkels, Dorine W; Zoller, Heinz; Kamarainen, Outi; Patton, Simon; Alonso, Isabel; Morris, Michael; Keeney, Steve (European journal of human genetics : EJHG, 2016)
Keywords: Best practice; Defects; Diagnosis; Disease; Genetic counseling; Genetic screening; Genetic Testing - methods; Genetic Testing - standards; Genetics; Genotyping; Hematology; Hemochromatosis; Hemochromatosis - diagnosis; Hemochromatosis - genetics; Hemochromatosis Protein - genetics; Hepatology; Heterozygote; HFE protein; Homozygotes; Humans; Life Sciences; Liver; Molecular Diagnostic Techniques - methods; Molecular Diagnostic Techniques - standards; Mutation; Mutation, Missense; Policy; Science; Testing laboratories; Training; United Kingdom--UK; Portugal