| Description |
1 online resource (xxvii, 256 pages) : illustrations |
| Series |
Advances in experimental medicine and biology ; v. 685 |
|
Advances in experimental medicine and biology ; v. 685.
|
| Contents |
Triple-A syndrome / Vijaya Sarathi and Nalini S. Shah -- Amyotrophic lateral sclerosis / J. Jefferson [and others] -- Early-onset ataxia with ocular motor apraxia and hypoalbuminemia/ataxia with oculomotor apraxia 1 / Masayoshi Tada [and others] -- Clinical features and pathogenesis of Alzheimer's disease : involvement of mitochondria and mitochondrial DNA / Michelangelo Mancuso [and others] -- Huntington's disease / Emmanuel Roze [and others] -- Clinical features and molecular mechanisms of spinal and bulbar muscular atrophy (SBMA) / Masahisa Katsuno [and others] -- Spinocerebellar ataxia with axonal neuropathy / Cheryl Walton [and others] -- Tuberous sclerosis complex and DNA repair / Samy L. Habib -- Hereditary photodermatoses / Dennis H. Oh and Graciela Spivak -- Trichothiodystrophy : photosensitive, TTD-P, TTD, Tay syndrome / W. Clark Lambert, Claude E. Gagna and Muriel W. Lambert -- Cornelia De Lange syndrome / Jinglan Liu and Gareth Baynam -- Rectal cancer and importance of chemoradiation in the treatment / Sergio Huerta -- Familial cutaneous melanoma / Johan Hansson -- Primary immunodeficiency syndromes / Mary A. Slatter and Andrew R. Gennery -- Inherited defects of immunoglobulin class switch recombination / Sven Kracker, Pauline Gardës and Anne Durandy -- Ligase IV syndrome / Dimitry A. Chistiakov -- Muir-Torre syndrome / Pedro Mercader -- Wilms' tumor / Carlos H. Martínez, Sumit Dave and Jonathan Izawa -- Cerebro-oculo-facio-skeletal syndrome / Hiroshi Suzumura and Osamu Arisaka -- Dyskeratosis congenita / Vineeta Gupta and Akash Kumar -- Retinoblastoma / Dietmar Lohmann -- Von Hippel Lindau syndrome / Jenny J. Kim, Brian I. Rini and Donna E. Hansel |
| Summary |
Since 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 |
| Bibliography |
Includes bibliographical references and index |
| Notes |
Print version record |
| In |
Springer eBooks |
| Subject |
DNA repair.
|
|
Genetic disorders.
|
|
Genetic Diseases, Inborn -- etiology
|
|
DNA Repair -- physiology
|
|
Genetic Diseases, Inborn -- therapy
|
|
DNA Repair
|
|
Genetic Diseases, Inborn
|
|
HEALTH & FITNESS -- Diseases -- Genetic.
|
|
MEDICAL -- Genetics.
|
|
Biomédecine.
|
|
Sciences de la vie.
|
|
DNA repair
|
|
Genetic disorders
|
| Form |
Electronic book
|
| Author |
Ahmad, Shamim I
|
| ISBN |
9781441964489 |
|
1441964487 |
|
1283074478 |
|
9781283074476 |
|
