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008			181230s2019 si a s |||| 0|eng d
020			_a9789811067228
024	7		_a10.1007/978-981-10-6722-8 _2doi
040			_bspa _cES-MaUEC _dES-MaUEC
050		4	_aQH467 _b.D63 2019 EB
245	0	0	_aDNA Repair Disorders _cedited by Chikako Nishigori, Kaoru Sugasawa
264		1	_aSingapore _bSpringer Singapore _c2019
300			_a1 recurso en línea (VIII, 221 páginas 46 ilustraciones, 29 ilustraciones a color)
336			_2rdacontent _aTexto _btxt
337			_2rdamedia _aelectrónico _bc
338			_2rdacarrier _arecurso electrónico _bcr
347			_atext file _bPDF
490	0		_aMedicine (Springer-11650)
505	0		_aGlobal 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.
520	3		_aThis 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. Clinical feature characteristics of each clinical subtype of XP are depicted according to the genotype, giving accurate and detailed information about the clinical features in terms of gene alterations, change of protein structure, and dysfunction in some of the repair pathways. This book is unique in that it provides detailed information on clinical features from more than 100 patients with XP-A, which is characterized by very severe manifestation of skin photosensitivity and neurological dysfunction. It will give readers important knowledge for understanding the concept and molecular mechanisms of DNA repair disorders. It also describes how to treat and care for patients with XP based on vast experience in clinical practice. DNA Repair Disorders will be a useful resource not only for physicians and basic scientists who are interested in and/or take care of patients with DNA repair disorders, but also dermatologists, neurologists, and researchers in the field of radiation biology and photobiology.
988			_aSpringer_Medicine_2019
650		7	_aADN _2embne _9140806
700	1		_aNishigori, Chikako. _eeditor literario _4edt _4http://id.loc.gov/vocabulary/relators/edt
700	1		_aSugasawa, Kaoru. _eeditor literario _4edt _4http://id.loc.gov/vocabulary/relators/edt _9100437
710	2		_aSpringerLink (Online service) _9106996
776	0	8	_iPrinted edition: _z9789811067211
776	0	8	_iPrinted edition: _z9789811067235
856	4	0	_uhttps://go.openathens.net/redirector/universidadeuropea.es?url=https://doi.org/10.1007/978-981-10-6722-8 _zAcceso a este recurso digital (usuarios Universidad Europea de Madrid)
942			_2lcc _cMSA
998			_dz _feng _ggw _h0 _b07/2019 _eu _zSI