A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes - Wikidata - awgldk - TriplyDB

A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes

A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes

http://www.wikidata.org/entity/Q28261627

about

Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency Polε Instability Drives Replication Stress, Abnormal Development, and Tumorigenesis.

P2860

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P2860

A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes

http://www.wikidata.org/entity/Q28261627

description

2015 nî lūn-bûn

@nan

2015 թուականի Մայիսին հրատարակուած գիտական յօդուած

@hyw

2015 թվականի մայիսին 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

A patient with polymerase E1 d ...... breakage/instability syndromes

@ast

A patient with polymerase E1 d ...... breakage/instability syndromes

@en

A patient with polymerase E1 d ...... breakage/instability syndromes

@nl

type

label

A patient with polymerase E1 d ...... breakage/instability syndromes

@ast

A patient with polymerase E1 d ...... breakage/instability syndromes

@en

A patient with polymerase E1 d ...... breakage/instability syndromes

@nl

prefLabel

A patient with polymerase E1 d ...... breakage/instability syndromes

@ast

A patient with polymerase E1 d ...... breakage/instability syndromes

@en

A patient with polymerase E1 d ...... breakage/instability syndromes

@nl

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S12881-015-0177-Y

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BMC Medical Genetics

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A patient with polymerase E1 d ...... breakage/instability syndromes

@en

P2093

Carol Saunders

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

David Zwick

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Emily Farrow

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Greyson Twist

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Holly I Welsh

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Isabelle Thiffault

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Janda Jenkins

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Kristi Canty

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Lauren Grote

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Lee Zellmer

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

P2860

Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly

The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA damage response

Structural organization and splice variants of the POLE1 gene encoding the catalytic subunit of human DNA polymerase epsilon

Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature ("FILS syndrome")

Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas

Warsaw breakage syndrome, a cohesinopathy associated with mutations in the XPD helicase family member DDX11/ChlR1

The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder

A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome

Germline and somatic polymerase ε and δ mutations define a new class of hypermutated colorectal and endometrial cancers

DNA polymerase ε and δ exonuclease domain mutations in endometrial cancer

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s12881-015-0177-y

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31

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scholarly article

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10.1186/S12881-015-0177-Y

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1

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16

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Stephen F Kingsmore

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2015-05-07T00:00:00Z

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276069163

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1006513174

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25948378

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4630961

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