Trichothiodystrophy: review of sulfur-deficient brittle hair syndromes and association with the ectodermal dysplasias.
about
Syndromic (phenotypic) diarrhea in early infancyXPC and human homologs of RAD23: intracellular localization and relationship to other nucleotide excision repair complexesTrichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestationsMolecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndromeHair loss in children.Dysregulation of the peroxisome proliferator-activated receptor target genes by XPD mutationsDynamic partnership between TFIIH, PGC-1α and SIRT1 is impaired in trichothiodystrophy.A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy.Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy.Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene.DNA repair and transcriptional effects of mutations in TFIIH in Drosophila development.UV damage causes uncontrolled DNA breakage in cells from patients with combined features of XP-D and Cockayne syndrome.Trichothiodystrophy with sideroblastic anaemia and developmental delay.Defective dendritic cell maturation in a child with nucleotide excision repair deficiency and CD4 lymphopenia.
P2860
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P2860
Trichothiodystrophy: review of sulfur-deficient brittle hair syndromes and association with the ectodermal dysplasias.
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article científic
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article scientifique
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articol științific
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articolo scientifico
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artigo científico
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artigo científico
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artigo científico
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artikel ilmiah
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name
Trichothiodystrophy: review of ...... ith the ectodermal dysplasias.
@en
Trichothiodystrophy: review of ...... ith the ectodermal dysplasias.
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type
label
Trichothiodystrophy: review of ...... ith the ectodermal dysplasias.
@en
Trichothiodystrophy: review of ...... ith the ectodermal dysplasias.
@nl
prefLabel
Trichothiodystrophy: review of ...... ith the ectodermal dysplasias.
@en
Trichothiodystrophy: review of ...... ith the ectodermal dysplasias.
@nl
P1476
Trichothiodystrophy: review of ...... ith the ectodermal dysplasias.
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P2093
P304
P407
P433
P577
1990-05-01T00:00:00Z