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DNA Repair Disorders
ISBN-13:
9789811067228
Veröffentl:
2018
Seiten:
221
Autor:
Chikako Nishigori
eBook Typ:
PDF
eBook Format:
EPUB
Kopierschutz:
1 - PDF Watermark
Sprache:
Englisch
Beschreibung:
This book focuses on the clinical aspects of DNA repair disorders. Nucleotide excision repair is an important pathway for humans, as it is involved in biologically fundamental functions. This work presents clinical features together with the pathogenesis of DNA repair disorders such as Xertoderma Pigmentosum (XP). Studies on animal models are included as well.
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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