This article examines examples of homozygous gene variants and their risk factors. We also look at how a heterozygous mutation differs from a homozygous mutation. Homozygous, or homozygosity ...

This paper reports the results of a study of the frequency of heterozygous and homozygous alpha1-antitrypsin deficiency in patients hospitalized with pulmonary emphysema at a Veterans ...

The combination of tezacaftor and ivacaftor was efficacious and safe in patients 12 years of age or older who had cystic fibrosis and were homozygous ... mutation or heterozygous for the Phe508del ...