X chromosome inactivation in carriers of Barth syndrome.
about
Only one splice variant of the human TAZ gene encodes a functional protein with a role in cardiolipin metabolismBarth Syndrome: From Mitochondrial Dysfunctions Associated with Aberrant Production of Reactive Oxygen Species to Pluripotent Stem Cell StudiesRespiratory supercomplexes: plasticity and implicationsBarth syndrome.Disorders of phospholipid metabolism: an emerging class of mitochondrial disease due to defects in nuclear genesRespiratory supercomplexes: structure, function and assembly.Evidence that mutations in the X-linked DDP gene cause incompletely penetrant and variable skewed X inactivation.Natural history of Barth syndrome: a national cohort study of 22 patients.High frequency of skewed X inactivation in young breast cancer patients.Buccal swab as a reliable predictor for X inactivation ratio in inaccessible tissues.Analysis of X chromosome inactivation in autism spectrum disorders.Genetic heterogeneity in severe congenital neutropenia: how many aberrant pathways can kill a neutrophil?Skewed X-chromosome inactivation plays a crucial role in the onset of symptoms in carriers of Becker muscular dystrophy.Preliminary evidence for a cognitive phenotype in Barth syndrome.CXorf56, a dendritic neuronal protein, identified as a new candidate gene for X-linked intellectual disability.Situs ambiguus in a female fetus with balanced (X;21) translocation--evidence for functional nullisomy of the ZIC3 gene?
P2860
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P2860
X chromosome inactivation in carriers of Barth syndrome.
description
1998 nî lūn-bûn
@nan
1998 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
X chromosome inactivation in carriers of Barth syndrome.
@ast
X chromosome inactivation in carriers of Barth syndrome.
@en
X chromosome inactivation in carriers of Barth syndrome.
@nl
type
label
X chromosome inactivation in carriers of Barth syndrome.
@ast
X chromosome inactivation in carriers of Barth syndrome.
@en
X chromosome inactivation in carriers of Barth syndrome.
@nl
prefLabel
X chromosome inactivation in carriers of Barth syndrome.
@ast
X chromosome inactivation in carriers of Barth syndrome.
@en
X chromosome inactivation in carriers of Barth syndrome.
@nl
P2093
P2860
P356
P1476
X chromosome inactivation in carriers of Barth syndrome.
@en
P2093
A K Naumova
K H Orstavik
P A Bolhuis
R E Orstavik
P2860
P304
P356
10.1086/302095
P407
P577
1998-11-01T00:00:00Z