Xeroderma Pigmentosum-Trichothiodystrophy overlap patient with novel XPD/ERCC2 mutation

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2013 nî lūn-bûn

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2013年の論文

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2013年論文

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2013年論文

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2013年論文

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2013年論文

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2013年論文

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2013年论文

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2013年论文

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2013年论文

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name

Xeroderma Pigmentosum-Trichothiodystrophy overlap patient with novel XPD/ERCC2 mutation

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type

Item

label

Xeroderma Pigmentosum-Trichothiodystrophy overlap patient with novel XPD/ERCC2 mutation

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prefLabel

Xeroderma Pigmentosum-Trichothiodystrophy overlap patient with novel XPD/ERCC2 mutation

@en

P1476

Xeroderma Pigmentosum-Trichothiodystrophy overlap patient with novel XPD/ERCC2 mutation

@en

P2093

Anja Raams

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Else Gade

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

Erling B Pedersen

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Henrik H Kralund

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Nicolaas G Jaspers

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P2860

Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations

Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship

First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure

A mouse model for the basal transcription/DNA repair syndrome trichothiodystrophy

Anti-tumour compounds illudin S and Irofulven induce DNA lesions ignored by global repair and exclusively processed by transcription- and replication-coupled repair pathways.

Characterization of tiger-tail banding and hair shaft abnormalities in trichothiodystrophy.

Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy.

Both XPD alleles contribute to the phenotype of compound heterozygote xeroderma pigmentosum patients.

Trichothiodystrophy: update on the sulfur-deficient brittle hair syndromes.

Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene.

P304

e24932

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scholarly article

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10.4161/RDIS.24932

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P478

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P50

Anette Bygum

Lilian Bomme Ousager

P577

2013-05-06T00:00:00Z

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P5875

263739815

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25002996

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3916142

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