Reduced level of the repair/transcription factor TFIIH in trichothiodystrophy

By Botta Elena  

Human Molecular Genetics, Vol. 11, Iss. 23, 2002-11 ,pp. : 2919-2928

Oxford University Press

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XPD mutations in trichothiodystrophy hamper collagen VI expression and reveal a role of TFIIH in transcription derepression

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Human Molecular Genetics, Vol. 22, Iss. 6, 2013-03 ,pp. : 1061-1073

Oxford University Press

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

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Human Molecular Genetics, Vol. 10, Iss. 22, 2001-10 ,pp. : 2539-2547

Oxford University Press

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Transcription factor MEF2A mutations in patients with coronary artery disease

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Human Molecular Genetics, Vol. 13, Iss. 24, 2004-12 ,pp. : 3181-3188

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The Simultaneous Presence of α- and β-Thalassaemia Alleles: A Pitfall of Thalassaemia Screening

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Public Health Genomics, Vol. 6, Iss. 1, 2003-04 ,pp. : 14-21

Karger

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