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Adverse effects of trichothiodystrophy DNA repair and transcription gene disorder on human fetal development

10 Dec 2009

Abstract excerpt

The effects of DNA repair and transcription gene abnormalities in human pre-natal life have never been studied. Trichothiodystrophy (TTD) is a rare (affected frequency of 10(-6)) recessive disorder caused by mutations in genes involved in nucleotide excision repair (NER) pathway and in transcription. Based on our novel clinical observations, we conducted a genetic epidemiologic study to investigate gestational...

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PMID: 20002457
DOI: 10.1111/j.1399-0004.2009.01336.x

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