نتایج جستجو برای: heterozygotes
تعداد نتایج: 4125 فیلتر نتایج به سال:
Our purpose was to compare HDL subpopulations, as determined by nondenaturing two-dimensional gel electrophoresis followed by immunoblotting for apolipoprotein A-I (apoA-I), apoA-II, apoA-IV, apoCs, and apoE in heterozygous, compound heterozygous, and homozygous subjects for cholesteryl ester transfer protein (CETP) deficiency and controls. Heterozygotes, compound heterozygotes, and homozygotes...
For some X-linked disorders the expressivity and penetrance in females are almost similar to those ones found in males. For mucopolysaccharidosis type II (MPS II), there are no studies in the literature trying to identify subtle signs and symptoms of this disease in heterozygotes. The objective of this study was to compare heterozygotes and non-heterozygotes for MPS II, in order to test the hyp...
The urinary amino acid patterns in parents of four cystine stone formers were investigated in order to determine the genetic types of the cystinuric families. The concentrations of urinary cystine, lysine, arginine and ornithine in the subjects were compared with those in heterozygotes of cystinuria reported by Harris and Rosenberg. All of the subjects except one who excreted the amino acids in...
apo B is a structural constituent of several classes of lipoprotein particles, including chylomicrons, VLDL, and LDL. To better understand the role of apo B in the body, we have used gene targeting in embryonic stem cells to create a null apo B allele in the mouse. Homozygous apo B deficiency led to embryonic lethality, with resorption of all embryos by gestational day 9. Heterozygotes showed a...
To characterize the heterogeneity of severe (type III) von Willebrand disease (vWD), plasma and platelet von Willebrand factor antigen (vWF:Ag) and ristocetin cofactor activity (Ricof) were measured in 28 obligatory heterozygotes (ie, parents or children of probands from 15 different kindreds with severe vWD). On the average, heterozygotes had low levels of vWF in both platelets and plasma. The...
Heterozygous ALG8 variants have previously been associated with polycystic liver disease (PLD) or without kidney cysts. A clear-cut relationship between the application of (PKD) diagnostic criteria and manifestations remains to be described. We, therefore, sought determine whether protein-truncating variant (PTV) heterozygotes are at increased risk PKD. We identified patients heterozygous for p...
UNLABELLED The risk of hemochromatosis-related morbidity is unknown among HFE compound heterozygotes (C282Y/H63D). We used a prospective population-based cohort study to estimate the prevalence of elevated iron indices and hemochromatosis-related morbidity for compound heterozygotes. In all, 31,192 subjects of northern European descent were genotyped for HFE C282Y and H63D. An HFE-genotype stra...
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