Prenatal diagnosis in a subset of trichothiodystrophy patients defective in DNA repair.
about
Global genome repair is required to activate KIN17, a UVC-responsive gene involved in DNA replication.Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestationsWide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assaysCorrelation of phenotype/genotype in a cohort of 23 xeroderma pigmentosum-variant patients reveals 12 new disease-causing POLH mutationsA UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damagePersistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy.A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy.High-risk pregnancy and neonatal complications in the DNA repair and transcription disorder trichothiodystrophy: report of 27 affected pregnancies.Preclinical corrective gene transfer in xeroderma pigmentosum human skin stem cells.Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy.Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients.Deletion of 5' sequences of the CSB gene provides insight into the pathophysiology of Cockayne syndrome.Molecular analysis of glioma and skin-tumour alterations in a xeroderma-pigmentosum child.Disorders of Keratinization
P2860
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P2860
Prenatal diagnosis in a subset of trichothiodystrophy patients defective in DNA repair.
description
1992 nî lūn-bûn
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1992年の論文
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1992年学术文章
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1992年学术文章
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1992年学术文章
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name
Prenatal diagnosis in a subset of trichothiodystrophy patients defective in DNA repair.
@en
Prenatal diagnosis in a subset of trichothiodystrophy patients defective in DNA repair.
@nl
type
label
Prenatal diagnosis in a subset of trichothiodystrophy patients defective in DNA repair.
@en
Prenatal diagnosis in a subset of trichothiodystrophy patients defective in DNA repair.
@nl
prefLabel
Prenatal diagnosis in a subset of trichothiodystrophy patients defective in DNA repair.
@en
Prenatal diagnosis in a subset of trichothiodystrophy patients defective in DNA repair.
@nl
P2093
P2860
P1476
Prenatal diagnosis in a subset of trichothiodystrophy patients defective in DNA repair.
@en
P2093
Blanchet-Bardon C
P2860
P304
P356
10.1111/J.1365-2133.1992.TB14845.X
P407
P577
1992-11-01T00:00:00Z