Gene of the issue: RUNX1 mutations and inherited bleeding.

about

Gene of the issue: RUNX1 mutations and inherited bleeding.

Item

http://www.wikidata.org/entity/Q40301272

description

2017 nî lūn-bûn

@nan

2017年の論文

@ja

2017年論文

@yue

2017年論文

@zh-hant

2017年論文

@zh-hk

2017年論文

@zh-mo

2017年論文

@zh-tw

2017年论文

@wuu

2017年论文

@zh

2017年论文

@zh-cn

name

Gene of the issue: RUNX1 mutations and inherited bleeding.

@en

type

Item

label

Gene of the issue: RUNX1 mutations and inherited bleeding.

@en

prefLabel

Gene of the issue: RUNX1 mutations and inherited bleeding.

@en

P1476

Gene of the issue: RUNX1 mutations and inherited bleeding.

@en

P2093

Martina E Daly

http://www.w3.org/2001/XMLSchema#string

Neil V Morgan

http://www.w3.org/2001/XMLSchema#string

P2860

Core binding factor genes and human leukemia

Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia.

In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis.

A novel inherited mutation of the transcription factor RUNX1 causes thrombocytopenia and may predispose to acute myeloid leukaemia.

Low Mpl receptor expression in a pedigree with familial platelet disorder with predisposition to acute myelogenous leukemia and a novel AML1 mutation.

Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions.

Regulation of platelet myosin light chain (MYL9) by RUNX1: implications for thrombocytopenia and platelet dysfunction in RUNX1 haplodeficiency

CBL mutation in chronic myelomonocytic leukemia secondary to familial platelet disorder with propensity to develop acute myeloid leukemia (FPD/AML).

MYH10 protein expression in platelets as a biomarker of RUNX1 and FLI1 alterations.

Enrichment of FLI1 and RUNX1 mutations in families with excessive bleeding and platelet dense granule secretion defects.

P304

208-210

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P31

scholarly article

P356

10.1080/09537104.2017.1280151

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P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P577

2017-02-17T00:00:00Z

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P698

28277065

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P932

5359732

http://www.w3.org/2001/XMLSchema#string

Gene of the issue: RUNX1 mutations and inherited bleeding.

about

Gene of the issue: RUNX1 mutations and inherited bleeding.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P698

P932