It is a heterozygous genotype for a particular gene if there are two different versions of it. For instance, a heterozygous for eye colour corresponds to say that you have one allele for black and one for brown.
Phenotype and genotype in homozygous and compound heterozygous FH patients - G. Reyes1, S Castillo1, P. Mozas1, D. Tejedor1, F. Civeira2, R. Alonso2, P. Mata2, F. Almagro2, M. Franco2, J. Tebar2, M. Pocovi1. 1Department of Biochemistry and Molecular Biology, University of ...
- 2002 - 192 - www.sciencedirect.comdoi:10.1016/S1567-5688(02)80585-2CROSSREFAtherosclerosis Supplements
Criteria for the diagnosis of HoFH were confirmed by the presence of 2 pathogenic mutant alleles at the LDLR, APOB or PCSK9 loci and further defined as true HoFH (identical mutation in each allele of the same gene) and compound heterozygous FH (nonidentical mutations in each allele of the ...
Germline-specific-Cas9 systems, such as pDD45-GT, have been reported to induce a high frequency of heterozygous mutations (44.32%) and a lower frequency of homozygotes (6.5%) in the T2 generation [14,15]. In our study the pYAO-Cas9 and pCDC45-Cas9 systems produced a lower frequency of...