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trichothiodystrophy
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ERCC2
Sublimiting concentration of TFIIH transcription/DNA repair factor causes TTD-A trichothiodystrophy disorder
A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A
ERCC3
Molecular cloning and biological characterization of the human excision repair gene ERCC-3.
A presumed DNA helicase encoded by ERCC-3 is involved in the human repair disorders xeroderma pigmentosum and Cockayne's syndrome.
p53 modulation of TFIIH-associated nucleotide excision repair activity.
Transcription factor IIE binds preferentially to RNA polymerase IIa and recruits TFIIH: a model for promoter clearance.
GTF2H5
Sublimiting concentration of TFIIH transcription/DNA repair factor causes TTD-A trichothiodystrophy disorder
MPLKIP
Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome
Cancer Gene Census
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ERCC2
Somatic tumors
Tumor types germline
skin basal cell, skin squamous cell, melanoma
Cancer Syndrom
xeroderma pigmentosum (D)
Translocation partner
Name
excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)
Chromosome banding
19q13.2-q13.3
Cancer molecular gen.
Rec
Mutation type
Mis, N, F, S
Other syndrome disease
Definition
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Pathways
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Clinical Trials
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External
Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy