Due to expected severe bleeding disorder and lack of family consent, organ biopsies were not performed and genetic analysis revealed a homozygotic
p.Gly514 Ser mutation in the VPS33B gene (Figure 1).
null-mutations in Artemis have a defined phenotype, multiple publications over the last years have shown that other genetic variants in Artemis, including heterozygotic and compound heterozygotic mutations, can cause a range of clinical presentations.
Also, the subjects were further grouped into wild type, heterozygotic and homozygotic
genotypes and the serum hormone levels within those groups were compared (Table 4).
The experiments were performed in homozygotic
3-month-old male LDLr deficient mice (LDLr-/-) generated in the background C57BL6/J, weighing 22 [+ or -] 3 g.
During investigation, an [alpha]-thalassemia trait (-alpha/-alpha homozygotic
), Hope Hemoglobin in beta chains, and hepatitis B immunity due to past infection (HBs and HBe antigen negative; anti-HBs and anti-HBe antibody positive) were diagnosed.
in both homozygotic
and heterozygotic alleles have been identified in PBD patients.
Several years earlier, in 1992, authors from the Psychology Department of the Kalamazoo Regional Psychiatric Hospital in Michigan, US, had demonstrated that twins (homozygotic
or heterozygotie) who had significantly different cerebral masses because one of the two had suffered from hydrocephalus, also had different intelligence.
All females in the case group were carrying either double heterozygotic polymorphisms of MTHFR C677T and MTHFR A1298C or had at least a homozygotic
polymorphism at either MTHFR gene loci (these conditions are termed "MTHFR high risk" in this study).
Genetic analysis showed homozygotic
S53N mutation on MVK gene 3rd exon, and the HIDS diagnosis was made.
Because a given CpG site in a given homozygotic
cell is either (fully) methylated or (fully) unmethylated, we acknowledge that the first group of participants has roughly twice as many circulating methylated cells as the second, so the higher impact of exposure in the top 50% group versus the bottom 50% group may not be unexpected.
[sup] Moreover, there are other possible modifying genes, given in addition to ATP7B , considering that different phenotypes exist in WD patients with same genotypes that in homozygotic