homozygous

Regeneron announced positive pivotal Phase 3 results for evinacumab, an investigational angiopoietin-like 3 antibody, in patients with homozygous familial hypercholesterolemia.

Deletion of all four [alpha] - globin genes (homozygous [alpha]0 thalassaemia (--/--) is not compatible with life and results in afatal condition called Haemoglobin Bart's Hydrops Foetalis.

Out of a total sample population of 91 individuals, 23 (25.3%) were homozygous for the major allele of rs2802288 (MM), while 63 (69.2%) were heterozygous (Mm) and 5 (5.5%) were homozygous for minor allele (mm).

A DNA analysis was performed and a homozygous nonsense mutation c.923C>A (p.S308X) and a homozygous variable-site mutationb c.1408G>A (p.V470M) (NCBI: SNP rs213950) in the CFTR gene were identified [Figure 2], confirming CF.{Figure 2}

To the best of our knowledge, CHI due to homozygous ABCC8 mutations and evolution to complete insulin deficient-diabetes later in life has not been reported.

Of the 32 participating laboratories, 18 reported this sample as homozygous for a normal allele, with a mean of 27 repeats (range, 26-30 repeats); 10 laboratories reported the sample as heterozygous for 2 differently sized normal alleles, with mean repeat numbers of 13.7 (range, 12-15) and 26 (range, 2327); 3 laboratories did not report specific allele sizes but rather that the results were normal; and 1 laboratory did not provide a result for SCA3 (Table 1).

A recent study established a correlation of the homozygous KCNMA1 mutation with cerebellar ataxia, developmental delay, and seizures.

In our study which GLUT1 rs710218 polymorphism (Adenine (A), Thymine (T)) was assessed, AA variant of this polymorphism was present in 22 out of the 35 patients, while AT (10 patients) or homozygous T (3 patients) variants were present in 13 patients (Figure 1).

Two patients have homozygous R335X, two homozygous R282Q, two homozygous R302L, and one compound heterozygous P302L/A64T mutation in L2HGDH gene.

Body weights and DGs were compared among the eight SLA haplotypes (n = 1,900), among piglets with homozygous or heterozygous haplotypes containing Lr-0.23 (n = 578), and among piglets with twenty common homozygous or heterozygous haplotypes detected in over 10 individuals in the population (Supplementary Table S1).

These authors showed that homozygous d3-GHR status was enriched in male centenarian populations across 4 independent cohorts, with homozygous male carriers living on average 10 years longer than wildtype counterparts.