DNA Repair Disorders

• Συγγραφή απο Οργανισμό/Αρχή: SpringerLink (Online service)
• Άλλοι συγγραφείς: Nishigori, Chikako (Επιμελητής έκδοσης, http://id.loc.gov/vocabulary/relators/edt), Sugasawa, Kaoru (Επιμελητής έκδοσης, http://id.loc.gov/vocabulary/relators/edt)
• Μορφή: Ηλεκτρονική πηγή Ηλ. βιβλίο
• Γλώσσα: English
• Έκδοση: Singapore : Springer Singapore : Imprint: Springer, 2019.
• Έκδοση: 1st ed. 2019.
• Θέματα: Dermatology.

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 Pi...

Πίνακας περιεχομένων:

• 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.