Genetics of mitochondrial disease:
Gespeichert in:
| Format: | Buch |
|---|---|
| Sprache: | English |
| Veröffentlicht: |
Oxford
Oxford University Press
2003
|
| Schriftenreihe: | Oxford monographs on medical genetics
47 |
| Schlagworte: | |
| Online-Zugang: | Inhaltsverzeichnis |
| Beschreibung: | xxiii, 350 p. ill. |
| ISBN: | 0198508654 |
Internformat
MARC
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| 300 | |a xxiii, 350 p. |b ill. | ||
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| 490 | 1 | |a Oxford monographs on medical genetics |v 47 | |
| 650 | 4 | |a ADN mitochondrial - Malformations | |
| 650 | 4 | |a Maladies mitochondriales - Aspect génétique | |
| 650 | 4 | |a Mitochondrial DNA |x Abnormalities | |
| 650 | 4 | |a Mitochondrial Diseases |x genetics | |
| 650 | 4 | |a Mitochondrial pathology |x Genetic aspects | |
| 650 | 0 | 7 | |a Erblichkeit |0 (DE-588)4152594-2 |2 gnd |9 rswk-swf |
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Datensatz im Suchindex
| _version_ | 1804129832009728000 |
|---|---|
| adam_text | Contents
List of contributors xv
Glossary xvii
Introduction xxi
Section I Mitochondrial structure and function
1 Replication, repair, and recombination of mitochondrial DNA 3
Johannes N Spelbrink
2 Mitochondrial DNA expression 27
Jan Willem Taanman
3 Mitochondrial biogenesis 47
Carlo M Koehler
4 Oxidative phosphorylation: an overview 69
Marten Wikstrom
Section II Pathological mutations of mitochondrial DNA
5 Clinical aspects of mitochondrial encephalomyopathies 87
T Pulkes and MG Hanna
6 Rearrangements of mitochondrial DNA 111
Eric A Schon
7 Pathological mutations affecting mitochondrial protein synthesis 125
Howard T Jacobs
8 Pathogenic mitochondrial DNA mutations in genes that encode respiratory
chain subunits 145
Neil Howell
Section III Nuclear genes and mitochondria] disease
9 Multiple mitochondrial DNA deletions and mitochondrial DNA depletion 165
Anu Suomalainen Wartiovaara
10 Nuclear gene mutations in mitochondrial disorders 181
Massimo Zeviani and Massimo Pandolfo
Section IV Cell function, neurodegenerative disorders, and ageing
11 The effects of mitochondrial DNA mutations on cell function 209
Andrew M James and Michael P Murphy
xiv Contents
12 Mitochondrial dysfunction in neurodegenerative disease 229
JM Cooper
13 Mechanisms underlying the age related accumulation of mutant
mitochondrial DNA 247
Aubrey DNJ de Grey
Section V Model systems, genetic counselling, and prospectus for therapy
14 Segregation and dynamics of mitochondrial DNA in mammalian cells 279
Jose Antonio Enriquez
15 Mouse models of mitochondrial disease 295
Caroline Graff and Nils Goran Larsson
16 Transmission, genetic counselling, and prenatal diagnosis of
mitochondrial DNA disease 309
Joanna Poulton, Vincent Macaulay, and David R Marchington
17 Gene therapy for mitochondrial DNA disorders 327
B Bigger, RW Taylor, DM Turnbull, and RN Lightowlers
Index 345
|
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| illustrated | Illustrated |
| indexdate | 2024-07-09T19:11:24Z |
| institution | BVB |
| isbn | 0198508654 |
| language | English |
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| physical | xxiii, 350 p. ill. |
| publishDate | 2003 |
| publishDateSearch | 2003 |
| publishDateSort | 2003 |
| publisher | Oxford University Press |
| record_format | marc |
| series | Oxford monographs on medical genetics |
| series2 | Oxford monographs on medical genetics |
| spelling | Genetics of mitochondrial disease edited by Ian James Holt Oxford Oxford University Press 2003 xxiii, 350 p. ill. txt rdacontent n rdamedia nc rdacarrier Oxford monographs on medical genetics 47 ADN mitochondrial - Malformations Maladies mitochondriales - Aspect génétique Mitochondrial DNA Abnormalities Mitochondrial Diseases genetics Mitochondrial pathology Genetic aspects Erblichkeit (DE-588)4152594-2 gnd rswk-swf Mitochondriopathie (DE-588)4280150-3 gnd rswk-swf Mitochondriopathie (DE-588)4280150-3 s Erblichkeit (DE-588)4152594-2 s DE-604 Holt, Ian James Sonstige oth Oxford monographs on medical genetics 47 (DE-604)BV000008339 47 HBZ Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=010206311&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Genetics of mitochondrial disease Oxford monographs on medical genetics ADN mitochondrial - Malformations Maladies mitochondriales - Aspect génétique Mitochondrial DNA Abnormalities Mitochondrial Diseases genetics Mitochondrial pathology Genetic aspects Erblichkeit (DE-588)4152594-2 gnd Mitochondriopathie (DE-588)4280150-3 gnd |
| subject_GND | (DE-588)4152594-2 (DE-588)4280150-3 |
| title | Genetics of mitochondrial disease |
| title_auth | Genetics of mitochondrial disease |
| title_exact_search | Genetics of mitochondrial disease |
| title_full | Genetics of mitochondrial disease edited by Ian James Holt |
| title_fullStr | Genetics of mitochondrial disease edited by Ian James Holt |
| title_full_unstemmed | Genetics of mitochondrial disease edited by Ian James Holt |
| title_short | Genetics of mitochondrial disease |
| title_sort | genetics of mitochondrial disease |
| topic | ADN mitochondrial - Malformations Maladies mitochondriales - Aspect génétique Mitochondrial DNA Abnormalities Mitochondrial Diseases genetics Mitochondrial pathology Genetic aspects Erblichkeit (DE-588)4152594-2 gnd Mitochondriopathie (DE-588)4280150-3 gnd |
| topic_facet | ADN mitochondrial - Malformations Maladies mitochondriales - Aspect génétique Mitochondrial DNA Abnormalities Mitochondrial Diseases genetics Mitochondrial pathology Genetic aspects Erblichkeit Mitochondriopathie |
| url | http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=010206311&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
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