DNA Repair Disorders (eBook, PDF)

Redaktion: Nishigori, Chikako; Sugasawa, Kaoru

• Format: PDF

Produktbeschreibung

Presents clinical features together with the pathogenesis of DNA repair disorders such as Xertoderma Pigmentosum (XP) Provides detailed information on clinical features from more than 100 patients with XP-A Aims to help understanding the concept and molecular mechanisms

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Produktdetails

• Verlag: Springer Nature Singapore
• Seitenzahl: 221
• Erscheinungstermin: 31. Dezember 2018
• Englisch
• ISBN-13: 9789811067228
• Artikelnr.: 54832525

Autorenporträt

Editors: Dr. Chikako Nishigori, Department of Dermatology, Kobe University Graduate School of Medicine, Kobe, Japan Dr. Kaoru Sugasawa, Biosignal Research Center, Kobe University, Kobe, Japan

Inhaltsangabe

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.