|
Xeroderma Pigmentosum, Complementation Group D
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Selective regulation of vitamin D receptor-responsive genes by TFIIH.
|
15494306 |
2004 |
|
Xeroderma Pigmentosum, Complementation Group D
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene.
|
11709541 |
2001 |
|
Photosensitive Trichothiodystrophy
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A temperature-sensitive disorder in basal transcription and DNA repair in humans.
|
11242112 |
2001 |
|
Xeroderma Pigmentosum, Complementation Group D
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.
|
10447254 |
1999 |
|
Photosensitive Trichothiodystrophy
|
|
0.800 |
GeneticVariation
|
UNIPROT |
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.
|
9758621 |
1998 |
|
Photosensitive Trichothiodystrophy
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene.
|
9238033 |
1997 |
|
Xeroderma Pigmentosum, Complementation Group D
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in the XPD gene leading to xeroderma pigmentosum symptoms.
|
9101292 |
1997 |
|
Photosensitive Trichothiodystrophy
|
|
0.800 |
GeneticVariation
|
UNIPROT |
DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient.
|
9195225 |
1997 |
|
Photosensitive Trichothiodystrophy
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy.
|
8571952 |
1996 |
|
Xeroderma Pigmentosum, Complementation Group D
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular 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 syndrome.
|
7825573 |
1995 |
|
Xeroderma Pigmentosum, Complementation Group D
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D.
|
7585650 |
1995 |
|
Photosensitive Trichothiodystrophy
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy.
|
7920640 |
1994 |
|
Xeroderma Pigmentosum, Complementation Group D
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene.
|
7849702 |
1994 |
|
Xeroderma Pigmentosum, Complementation Group D
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
Photosensitive Trichothiodystrophy
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
Trichothiodystrophy Syndromes
|
|
0.010 |
GeneticVariation
|
BEFREE |
Two patients were compound heterozygous for a TTD-causing mutation (c.366G>A, p.R112H) and a novel p.D681H (c.2072G>C) amino acid exchange, but exhibited different TTD and XP/CS complex phenotypes, respectively.
|
23800062 |
2013 |