Sources of gene expression variation in a globally diverse human cohort
Genetic variation that influences gene expression and splicing is a key source of phenotypic
diversity,,,–. Although invaluable, studies investigating these links in humans have been …
diversity,,,–. Although invaluable, studies investigating these links in humans have been …
Platelet genetic testing by next‐generation sequencing: A practical update
D Chen, RK Pruthi - International Journal of Laboratory …, 2023 - Wiley Online Library
Inherited platelet disorders (IPDs) are a heterogeneous group of disorders characterized by
normal or reduced platelet counts, bleeding diatheses of varying severities, and the …
normal or reduced platelet counts, bleeding diatheses of varying severities, and the …
Comprehensive functional characterization of a novel ANO6 variant in a new patient with Scott syndrome
SJ Montague, J Price, K Pennycott, NJ Pavey… - Journal of Thrombosis …, 2024 - Elsevier
Background Scott syndrome is a mild platelet-type bleeding disorder, first described in 1979,
with only 3 unrelated families identified through defective phosphatidylserine (PS) exposure …
with only 3 unrelated families identified through defective phosphatidylserine (PS) exposure …
[HTML][HTML] A novel nonsense variant in TPM4 caused dominant macrothrombocytopenia, mild bleeding tendency and disrupted cytoskeleton remodeling
A Marín‐Quílez, E Vuelta, L Díaz‐Ajenjo… - Journal of Thrombosis …, 2022 - Elsevier
Background Rare inherited thrombocytopenias are caused by alterations in genes involved
in megakaryopoiesis, thrombopoiesis and/or platelet release. Diagnosis is challenging due …
in megakaryopoiesis, thrombopoiesis and/or platelet release. Diagnosis is challenging due …
Characterization of novel genes and variants involved in Congenital Platelet Disorders: from the genomic data to the functional studies
A Marín Quílez - 2022 - gredos.usal.es
Background: Rare inherited thrombocytopenias are caused by alterations in genes involved
in megakaryopoiesis, thrombopoiesis and/or platelet release. Diagnosis is challenging due …
in megakaryopoiesis, thrombopoiesis and/or platelet release. Diagnosis is challenging due …