three different mutations, if inherited in a homozygous or compound-heterozygous manner, may be associated with the development of ligneous conjunctivitis. In... K Tefs,CR Tait,ID Walker,... - 《Blood Coagulation & Fibrinolysis An International Journal in Haemostasis & Thrombosis》 被引量: 36发...
a AA represents homozygous, AB represents heterozygous, and BB represents homozygous alternative. b The ancestral A haplotype accumulates SNPs, differentiating it into two versions of the A haplotype: A1 and A2. The ‘Y’ shaped haplotype tree represents the predicted evolutionary relationships between...
Gauthier J, Ouled Amar Bencheikh B, Hamdan FF et al: A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome. Eur J Hum Genet 2015; 23: 1266–1268. Article CAS Google Scholar Mc Laughlin D, Puri P : Familial megacystis ...
At the Cox regression analysis, having either a wild-type (wt) or a homozygous JAK2V617F genotype were factors for BT (HR, 1.98 and 2.04, respectively, with respect to the heterozygous genotype), but not for OS. At the competing risks regression analysis, the risk for BT in wt and ...
findGSE is a tool for estimating size of (heterozygous diploid or homozygous) genomes by fittingk-mer frequencies iteratively with a skew normal distribution model, which is written inR(code). The current version works on Linux & Mac OS X withRversion 3.3.1 or above. ...
PCR amplification was performed as described in the text. Mutation p.K1495E creates a novel recognition site for MboII. Thus, heterozygous carriers display a 93 bp fragment and healthy homozygous individuals show only a 115 bp fragment; mutation p.R344X abolishes a recognition site for ...
17a–c). Interestingly, the gland phenotypes varied in cr-lfs mutants, which seemed to be associated with the LFS levels. In some heterozygous lines (#1), only the glands of DGT were inhibited, whereas all glands in both PGT and DGT were suppressed in homozygous lines (#3, Supplementary ...
homozygous with regard to this trait. The offspring from this future parent would have an increased chance of being blue when paired with a heterozygous mate, though with ahomozygous dominantparent, once again “GG,” the offspring would again be heterozygous. A monohybrid cross is often the ...
The resulting amino acid substitution is predicted to disrupt critical molecular interactions at the ligand-binding domain [51]. All pathogenic mutations described until 2014 were heterozygous and located in the DNA- or ligand-binding domains of the PPARγ protein. Most of them show dominant ...
These polymorphisms can occur as a heterozygous genotype (polymorphism in only one allele), homozygous (polymorphism in both alleles), and in the form of complex heterozygotes (one of the above-mentioned polymorphisms in one allele and the other in the other allele). According to the Genome ...