A novel nonsense variant in TPM4 caused dominant macrothrombocytopenia, mild bleeding tendency and disrupted cytoskeleton remodeling
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Thrombosis and Haemostasis"
DOI: 10.1111/jth.15672
Abstract: Rare inherited thrombocytopenias are caused by alterations in genes involved in megakaryopoiesis, thrombopoiesis and/or platelet release. Diagnosis is challenging due to poor specificity of platelet laboratory assays, large numbers of culprit genes, and difficult assessment… read more here.
Keywords: nonsense variant; caused dominant; tpm4 caused; variant tpm4 ... See more keywords
Theoretical Framework for the Study of Genetic Diseases Caused by Dominant Alleles
Sign Up to like & getrecommendations! Published in 2023 at "Life"
DOI: 10.3390/life13030733
Abstract: We propose a theoretical basis for analyzing several features of genetic diseases caused by dominant alleles, including: disease prevalence, genotype penetrance, and the relationship between causal genotype frequency and disease frequency. In addition, we provide… read more here.
Keywords: genetic diseases; caused dominant; disease; diseases caused ... See more keywords