000			03232nam a22004695i 4500
001			978-1-4419-6448-9
003			DE-He213
005			20140220084509.0
007			cr nn 008mamaa
008			110110s2010 xxu| s |||| 0|eng d
020			_a9781441964489 _9978-1-4419-6448-9
024	7		_a10.1007/978-1-4419-6448-9 _2doi
050		4	_aRB155-155.8
050		4	_aQH431
072		7	_aMFN _2bicssc
072		7	_aMED107000 _2bisacsh
082	0	4	_a611.01816 _223
082	0	4	_a599.935 _223
100	1		_aAhmad, Shamim I. _eeditor.
245	1	0	_aDiseases of DNA Repair _h[electronic resource] / _cedited by Shamim I. Ahmad.
264		1	_aNew York, NY : _bSpringer New York, _c2010.
300			_aXXVIII, 256p. 49 illus. _bonline resource.
336			_atext _btxt _2rdacontent
337			_acomputer _bc _2rdamedia
338			_aonline resource _bcr _2rdacarrier
347			_atext file _bPDF _2rda
490	1		_aAdvances in Experimental Medicine and Biology, _x0065-2598 ; _v685
505	0		_aTriple-A Syndrome -- Amyotrophic Lateral Sclerosis -- Early-Onset Ataxia with Ocular Motor Apraxia and Hypoalbuminemia/Ataxia with Oculomotor Apraxia -- Clinical Features and Pathogenesis of Alzheimer’s Disease: Involvement of Mitochondria and Mitochondrial DNA -- Huntington’s Disease -- Clinical Features and Molecular Mechanisms of Spinal and Bulbar Muscular Atrophy (SBMA) -- Spinocerebellar Ataxia with Axonal Neuropathy -- Tuberous Sclerosis Complex and DNA Repair -- Hereditary Photodermatoses -- Trichothiodystrophy: Photosensitive, TTD-P, TTD, Tay Syndrome -- Cornelia de Lange Syndrome -- Rectal Cancer and Importance of Chemoradiation in the Treatment -- Familial Cutaneous Melanoma -- Primary Immunodeficiency Syndromes -- Inherited Defects of Immunoglobulin Class Switch Recombination -- Ligase IV Syndrome -- Muir-Torre Syndrome -- Wilms’ Tumor -- Cerebro-Oculo-Facio-Skeletal Syndrome -- Dyskeratosis Congenita -- Retinoblastoma -- Von Hippel Lindau Syndrome.
520			_aSince this book is geared to be used by varied groups of readers such as advanced students and instructors in the fields of biology and medicine, scientists and more importantly clinicians, it is considered important to provide brief accounts of the basics of DNA damage, repair, mutagenesis and cancer. The purpose of this book is to present an updated detailed account of some important additional diseases of DNA repair. It has not been possible to cover all the DNA repair deficient diseases in this volume, hence diseases such as Bloom’s syndrome, Werner’s syndrome, Nijmegen breakage syndrome, ataxia telangiectasia‑like disorder, RA D 50 deficiency, RIDDLE syndrome and others will be presented in a forthcoming volume.
650		0	_aMedicine.
650		0	_aHuman genetics.
650	1	4	_aBiomedicine.
650	2	4	_aHuman Genetics.
650	2	4	_aBiomedicine general.
710	2		_aSpringerLink (Online service)
773	0		_tSpringer eBooks
776	0	8	_iPrinted edition: _z9781441964472
830		0	_aAdvances in Experimental Medicine and Biology, _x0065-2598 ; _v685
856	4	0	_uhttp://dx.doi.org/10.1007/978-1-4419-6448-9
912			_aZDB-2-SBL
999			_c110640 _d110640