ERCC6L2 mutations link a distinct bone-marrow-failure syndrome to DNA repair and mitochondrial function.
about
Oxidative stress, bone marrow failure, and genome instability in hematopoietic stem cellsThe genomics of inherited bone marrow failure: from mechanism to the clinic.A nonsense mutation in the DNA repair factor Hebo causes mild bone marrow failure and microcephaly.Triallelic and epigenetic-like inheritance in human disorders of telomerase.Reactive Oxygen Species Limit the Ability of Bone Marrow Stromal Cells to Support Hematopoietic Reconstitution in Aging Mice.Genome-wide gene-environment interaction analysis of pesticide exposure and risk of Parkinson's disease.Base excision repair variants and pesticide exposure increase Parkinson's disease risk.Bone marrow failure syndrome caused by homozygous frameshift mutation in the ERCC6L2 gene.Two novel colorectal cancer risk loci in the region on chromosome 9q22.32.ERCC6L2-associated inherited bone marrow failure syndrome.Genome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelic variants
P2860
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P2860
ERCC6L2 mutations link a distinct bone-marrow-failure syndrome to DNA repair and mitochondrial function.
description
2014 nî lūn-bûn
@nan
2014 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
ERCC6L2 mutations link a disti ...... ir and mitochondrial function.
@ast
ERCC6L2 mutations link a disti ...... ir and mitochondrial function.
@en
type
label
ERCC6L2 mutations link a disti ...... ir and mitochondrial function.
@ast
ERCC6L2 mutations link a disti ...... ir and mitochondrial function.
@en
prefLabel
ERCC6L2 mutations link a disti ...... ir and mitochondrial function.
@ast
ERCC6L2 mutations link a disti ...... ir and mitochondrial function.
@en
P2093
P2860
P921
P1476
ERCC6L2 mutations link a disti ...... ir and mitochondrial function.
@en
P2093
Amanda J Walne
Corinne Pondarre
Hemanth Tummala
Inderjeet Dokal
Michael Kirwan
Nicholas Jackson
Tom Vulliamy
Upal Hossain
P2860
P304
P356
10.1016/J.AJHG.2014.01.007
P407
P577
2014-02-01T00:00:00Z