Use of next-generation sequencing and candidate gene analysis to identify underlying defects in patients with inherited platelet function disorders.
about
Inherited platelet disorders: toward DNA-based diagnosisGenomic landscape of megakaryopoiesis and platelet function defectsGenomics of platelet disorders.Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defectsWhole-exome sequencing of a patient with severe and complex hemostatic abnormalities reveals a possible contributing frameshift mutation in C3AR1.Dawning of the age of genomics for platelet granule disorders: improving insight, diagnosis and management.Molecular phenotype and bleeding risks of an inherited platelet disorder in a family with a RUNX1 frameshift mutation.Diagnosis of inherited platelet disorders on a blood smear: a tool to facilitate worldwide diagnosis of platelet disorders.Novel mutations in RASGRP2, which encodes CalDAG-GEFI, abrogate Rap1 activation, causing platelet dysfunction.Inherited platelet disorders: Insight from platelet genomics using next-generation sequencing.Genomic approaches to bleeding disorders.A diagnostic approach to mild bleeding disorders.Diagnosis of inherited bleeding disorders in the genomic era.Combined variants in factor VIII and prostaglandin synthase-1 amplify hemorrhage severity across three generations of descendants.Platelet disorders: the next generation is in.Targeted deep resequencing of ALOX5 and ALOX5AP in patients with diabetes and association of rare variants with leukotriene pathways.Whole exome sequencing identifies a mutation in thrombomodulin as the genetic cause of a suspected platelet disorder in a family with normal platelet function.High-throughput sequencing approaches for diagnosing hereditary bleeding and platelet disorders.Challenges on the diagnostic approach of inherited platelet function disorders: Is a paradigm change necessary?Genomics and transcriptomics of megakaryocytes and platelets: Implications for health and disease
P2860
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P2860
Use of next-generation sequencing and candidate gene analysis to identify underlying defects in patients with inherited platelet function disorders.
description
2015 nî lūn-bûn
@nan
2015 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
name
Use of next-generation sequenc ...... d platelet function disorders.
@ast
Use of next-generation sequenc ...... d platelet function disorders.
@en
type
label
Use of next-generation sequenc ...... d platelet function disorders.
@ast
Use of next-generation sequenc ...... d platelet function disorders.
@en
prefLabel
Use of next-generation sequenc ...... d platelet function disorders.
@ast
Use of next-generation sequenc ...... d platelet function disorders.
@en
P2093
P2860
P50
P356
P1476
Use of next-generation sequenc ...... d platelet function disorders.
@en
P2093
M A Simpson
UK GAPP Study Group
P2860
P304
P356
10.1111/JTH.12836
P577
2015-01-27T00:00:00Z