(Q42523675)

1 November 2017

Mutations in the XPD gene in xeroderma pigmentosum group D cell strains: confirmation of genotype-phenotype correlation (English)

1 reference

xeroderma pigmentosum group D

1 November 2017

xeroderma pigmentosum

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based on heuristic

inferred from title

1 reference

Takehiro Kobayashi

1

1 reference

1 November 2017

Makoto Uchiyama

series ordinal

2

1 reference

1 November 2017

Shuhei Fukuro

series ordinal

3

1 reference

1 November 2017

Kiyoji Tanaka

series ordinal

4

1 reference

1 November 2017

language of work or name

1 reference

1 July 2002

1 reference

American Journal of Medical Genetics Part A

1 November 2017

1 reference

1 November 2017

110

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1 November 2017

3

1 reference

1 November 2017

248-252

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Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity

1 November 2017

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10465

Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10465

A summary of mutations in the UV-sensitive disorders: Xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10465

Dual role of TFIIH in DNA excision repair and in transcription by RNA polymerase II

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10465

Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10465

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10465

The XPD complementation group. Insights into xeroderma pigmentosum, Cockayne's syndrome and trichothiodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10465

Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10465

Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10465

DNA repair helicase: a component of BTF2 (TFIIH) basic transcription factor

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10465

DNA repair. Engagement with transcription

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10465

21 January 2018

Identifiers

DOI

10.1002/AJMG.10465

1 reference

1 November 2017

1 reference