Inherited thrombophilia is now demonstrated to be a multigenic disease; the most common genetic risk factors are the factor V Leiden and the prothrombin mutations. Prior to the discovery of these mutations, three less common genetic risk factors had been......
Introduction: While Factor V Leiden (F5 rs6025 A allele) is a known venous thromboembolism (VTE) risk factor, VTE risk among heterozygous vs. homozygous carriers is uncertain.Botero, J. PerezOrmsby, W. D.Ashrani, A. A.McBane, R. D., IIWysokinski, W. E.Patnaik, M. M.Lewis, B. ...
Homozygous and heterozygous deletions of the von Willebrand factor gene in patients and carriers of severe von Willebrand disease. Ngo,K.,Y.,... - 《Proceedings of the National Academy of Sciences》 被引量: 177发表: 1988年 Characterization of the von Willebrand Factor Gene (VWF) in von ...
Homozygous and Heterozygous Expression of a Novel Insulin-Like Growth Factor-I Mutation IGF-I is a key factor in intrauterine development and postnatal growth and metabolism. The secretion of IGF-I in utero is not dependent on GH, whereas in c... MJE Walenkamp,M Karperien,AM Pereira,... ...
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...
Incon- sistencies in the segregation of haplotypes for related individuals in this family were observed in the putative homozygous region, suggesting that there may be a heterozygous deletion spanning the entire ZEB1 locus (Figure 1a). SNP genotyping array analysis of two affected individuals (III:...
(first, second or third degree; here individuals with highest positive score are shown linked). Estimates of the relationship level were obtained using KING software29and reflect the level of shared heterozygous or homozygous haplotype blocks. DXW, Daxin wild; for the cultivars see Supplementary ...
We used a noninvasive method to examine sleep in developing homozygous and heterozygous Shank3ΔC mice of both sexes, together with wild-type littermates, and observed that sleep disruption is prevalent Shank3ΔC/ΔC males and females as an early phenotype. Developmental onset of sleep ...
Deep-Del (homozygous loss), CN < −1; Shallow-Del (heterozygous loss), −1 ≤ CN < −0.4; Unaltered, CN ≥ −0.4. Hashtags indicate tumors that acquired deleterious mutations in RB1. On the bottom, representative pictures showing IHC staining of p16, pRb, cyclin E1 ...
ROC curve analysis and determination of the cutoff value of G6PD activity in male and female groups separately, to discriminate between (A) normal vs hemizygous males, (B) normal vs heterozygous females, (C) heterozygous vs homozygous/compound heterozygous females. The curve is generated by plottin...