A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies.
about
Inherited platelet disorders: toward DNA-based diagnosisThe Human Phenotype Ontology in 2017Genomics of platelet disorders.Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34+ progenitors.Dawning of the age of genomics for platelet granule disorders: improving insight, diagnosis and management.The transcription factor GATA1 regulates NBEAL2 expression through a long-distance enhancer.Diagnosis of inherited platelet disorders on a blood smear: a tool to facilitate worldwide diagnosis of platelet disorders.[Diagnostics in human genetics : Integration of phenotypic and genomic data].Inherited platelet disorders: Insight from platelet genomics using next-generation sequencing.Approaches to identify kinase dependencies in cancer signalling networks.Diagnosis of inherited bleeding disorders in the genomic era.ISTH Advanced Training Course on platelet bleeding disorders: How should they be investigated?St. Anne's College, Oxford, 6-9th September 2016.Genetic Alterations of the Thrombopoietin/MPL/JAK2 Axis Impacting Megakaryopoiesis.Platelet disorders: the next generation is in.Critical role of the HDAC6-cortactin axis in human megakaryocyte maturation leading to a proplatelet-formation defect.Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders.High-throughput sequencing approaches for diagnosing hereditary bleeding and platelet disorders.High-throughput sequencing for rapid diagnosis of inherited platelet disorders: a case for a European consensus.Genomics and transcriptomics of megakaryocytes and platelets: Implications for health and disease
P2860
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P2860
A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies.
description
2016 nî lūn-bûn
@nan
2016 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2016 թվականի մարտին հրատարակված գիտական հոդված
@hy
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
name
A dominant gain-of-function mu ...... leeding, and bone pathologies.
@ast
A dominant gain-of-function mu ...... leeding, and bone pathologies.
@en
type
label
A dominant gain-of-function mu ...... leeding, and bone pathologies.
@ast
A dominant gain-of-function mu ...... leeding, and bone pathologies.
@en
prefLabel
A dominant gain-of-function mu ...... leeding, and bone pathologies.
@ast
A dominant gain-of-function mu ...... leeding, and bone pathologies.
@en
P2093
P2860
P50
P1476
A dominant gain-of-function mu ...... leeding, and bone pathologies.
@en
P2093
Andrew D Mumford
Anne M Kelly
Anouck Wijgaerts
Antony Attwood
BRIDGE-BPD Consortium
Carolyn M Millar
Chantal Thys
Chris Van Geet
Christine Wittevrongel
Christopher J Penkett
P2860
P304
P356
10.1126/SCITRANSLMED.AAD7666
P407
P50
P577
2016-03-02T00:00:00Z