However, we always infer minor parental ancestry to be in a heterozygous state, providing evidence only of backcrossing to either parent, rather than of breeding between hybrids themselves. This is ...
Familial hypercholesterolemia results from gene mutations approximately halving the number of functional LDL receptors in heterozygotes and a greater lack in homozygotes. Reduced receptor-mediated ...
Hereditary hemochromatosis (HH) is an iron overload disorder classified into four types based on different mutations ... and rarely C282Y/H63D compound heterozygous. The highest prevalence ...
Genetic disorders are diseases caused by an abnormal gene, often described as a mutation. When such diseases are inherited (rather than the result of a random mutation), it means they are passed along ...
For the first time, the British Thoracic Society (BTS), National Institute for Health and Care Excellence (NICE) and the Scottish Intercollegiate Guidelines Network (SIGN) have collaborated to develop ...