DNA Repair Disorders

Global genome-nucletotide excision repair.- Disorders with deficiency in TC-NER.- Xertoderma pigmentosum genotype-phenotype relationship.- Neurological symptoms in xeroderma pigmentosum.- Hearing impairment in xeroderma pigmentosum: animal model and human study.- Epidemiological study of Xeroderma pigmentosum in Japan - gentoype phenotype relationship.- prenatal diagnosis of xeroderma pigmentosum.- Neurological disorders and challenging intervention in xeroderma pigmentosum and Cockayne syndrome.- Xeroderma Pigmentosum in the UK.- Cockayne syndromes - clinical aspects.- Trichothiodystrophy.- Rothmund Thompson syndrome.- Translesion synthesis.- Ataxia Telangiectasia and NBS.- Promising treatment for genetic diseases.

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• Dermatologia

DNA repair;Xertoderma pigmentosum;Nucletotide excision repair;Cockayne syndromes;Trichothiodystrophy;Genetic diagnosis