Brai M, Misiano G, Maringhini S, Cutaja I, Hauptmann G: Combined homozygous factor H and heterozygous C2 deficiency in an Italian family. J Clin Immunol 1988, 8:50-56.Brai M, Misiano G, Maringhini S, Cutaja I, Hauptmann G (1988) Combined homozygous factor H and heterozygous C2 ...
Thus, the patient appeared to be doubly heterozygous for interacting genetic abnormalities affecting vWF expression. In the third group, no gene deletions could be detected. Alloantibodies developed only in the kindred with homozygous deletions. These techniques should prove useful in identifying carriers...
Idiopathic Budd–Chiari syndrome in a patient with homozygous Factor V Leiden and heterozygous Factor II G20210A mutations Idiopathic Budd-Chiari syndrome in a patient with homozygous factor Leiden and heterozygous Factor G20210A mutation on the prothrombin gene. de Stefano V,... VD Stefano,P Mado...
Novel homozygous fibrinogen A± chain truncation causes severe afibrinogenemia with life threatening complications in a two-year-old boy.###Nonsense-mediated mRNA decay was demonstrated in two hypofibrinogenemias caused by heterozygous nonsense mutations of FGG, Shizuoka III and Kanazawa II.###Dusart...
(GR)80flies that are heterozygous for differentlillimutant alleles. Partial loss of Lilli activity bylilliA17-2,lilli4U5, andlillik05431heterozygosity extended median survival by 14, 8, and 7 days, respectively.p < 0.0001 (log-rank test). Lilli overexpression decreased the median survival ...
In a re- cent study of thrombophilic families, individuals homozygous for Factor V Leiden or doubly heterozygous for Factor V Leiden and the prothrombin 20210GϾA mutations did not have an increased risk for recurrence, even when the analysis was restricted to those with a first idiopathic VTE...
(AB > 0.9 or AB < 0.1); (c) variant GQ per sample (from GATK) < 20; (d) heterozygous genotype calls on chrX nonPAR of the male donors; (e) heterozygous genotype calls on chrY nonPAR of the male donors or, heterozygous/homozygous calls on chrY nonPAR of female ...
Given that there are two alleles for each of the genes, the genetic test(s) may identify individuals with no mutations, individuals with a single mutation (heterozygous), or individuals with two mutations (homozygous or compound heterozygous). Two categories of studies are available to assess ...
A study of TBX5, encoding a cardiac TF, found that a subset of genes dysregulated by homozygous TBX5 deletion showed consistent but milder changes following heterozygous deletion; some of these genes may represent dosage-sensitive effectors53. A study using doxycycline-induced expression found level...
Human factor V was isolated by using the methods of Nesheim et al (47). Factor VArg506➝Gln was purified from plasma of a patient which is homozygous for the factor VLEIDEN mutation as described (26). Recombinant factor VIII and recombinant tissue factor were provided as a gift from Drs...