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04060nam a22004335i 4500 |
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OSt |
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20140310150236.0 |
| 007 - PHYSICAL DESCRIPTION FIXED FIELD--GENERAL INFORMATION |
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120917s2013 xxu| s |||| 0|eng d |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER |
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| International Standard Book Number |
9781461437222 |
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978-1-4614-3722-2 |
| 050 #4 - LIBRARY OF CONGRESS CALL NUMBER |
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| Classification number |
RB155-155.8 |
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| Classification number |
QH431 |
| 082 04 - DEWEY DECIMAL CLASSIFICATION NUMBER |
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| Classification number |
611.01816 |
| Edition number |
23 |
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| Classification number |
599.935 |
| Edition number |
23 |
| 264 #1 - |
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| -- |
New York, NY : |
| -- |
Springer New York : |
| -- |
Imprint: Springer, |
| -- |
2013. |
| 912 ## - |
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| -- |
ZDB-2-SBL |
| 100 1# - MAIN ENTRY--PERSONAL NAME |
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| Personal name |
Wong, Lee-Jun C. |
| Relator term |
editor. |
| 245 10 - IMMEDIATE SOURCE OF ACQUISITION NOTE |
|---|
| Title |
Mitochondrial Disorders Caused by Nuclear Genes |
| Medium |
[electronic resource] / |
| Statement of responsibility, etc |
edited by Lee-Jun C. Wong. |
| 300 ## - PHYSICAL DESCRIPTION |
|---|
| Extent |
XII, 369 p. 32 illus., 20 illus. in color. |
| Other physical details |
online resource. |
| 505 0# - FORMATTED CONTENTS NOTE |
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| Formatted contents note |
Part 1: Overview -- The Clinical Spectrum of Nuclear DNA-Related Mitochondrial Disorders -- Biochemical and Molecular Methods for the Study of Mitochondrial Disorders -- Part 2: Genes Involved in Mitochondrial DNA Biogenesis and Maintenance of Mitochondrial DNA Integrity -- Mitochondrial Disorders Associated with the Mitochondrial DNA Polymerase g: A Focus on Intersubunit Interactions -- Alpers-Huttenlocher Syndrome, Polymerase Gamma 1, and Mitochondrial Disease -- Deoxyguanosine Kinase -- MPV17-Associated Hepatocerebral Mitochondrial DNA Depletion Syndrome -- Mitochondrial DNA Multiple Deletion Syndromes, Autosomal Dominant and Recessive (POLG, POLG2, TWINKLE and ANT1) -- Defects in Mitochondrial Dynamics and Mitochondrial DNA Instability -- Depletion of mtDNA with MMA: SUCLA2 and SUCLG1 -- RRM2B-Related Mitochondrial Disease -- Part 3: Complex Subunits and Assembly Genes -- Complex Subunits and Assembly Genes: Complex I -- Mitochondrial Respiratory Chain Complex II -- Mitochondrial Complex III Deficiency of Nuclear Origin: Molecular Basis, Pathophysiological Mechanisms and Mouse Models -- Mitochondrial Cytochrome c Oxidase Assembly in Health and Human Diseases -- Part 4: Mitochondrial Protein Translation Related Diseases -- Mitochondrial Aminoacyl-tRNA Synthetases -- Mitochondrial Protein Translation Related Disease: Mitochondrial Ribosomal Proteins and Translation Factors -- Disorders of Mitochondrial RNA Modification -- Part 5: Others -- Pyruvate Dehydrogenase Complex Deficiencies -- Nuclear Genes Causing Mitochondrial Cardiomyopathy -- Mitochondrial Diseases Caused by Mutations in Inner Membrane Chaperone Proteins -- Index. |
| 520 ## - SUMMARY, ETC. |
|---|
| Summary, etc |
Mitochondrial cytopathies are mutations in the inherited maternal mitochondrial genome, or the nuclear DNA-mutation. Mitochondrial respiratory chain disorders (RCD) are a group of genetically and clinically heterogeneous diseases, due to the fact that protein components of the respiratory chain are encoded by both mitochondrial and nuclear genomes and are essential in all cells. In addition, the biogenesis, structure and function of mitochondria, including DNA replication, transcription, and translation, all require nuclear encoded genes. Since mitochondria are present in every cell, every tissue, mitochondrial disorders usually affects multiple organs. Mitochondrial Disorders Caused by Nuclear Genes discusses the biochemical, molecular, clinical, and genetic aspects of complex dual genome mitochondrial disorders. Chapters include genes involved in mitochondrial DNA biogenesis and maintenance of mitochondrial DNA integrity, complex subunits and assembly genes, and mitochondrial protein translation related diseases. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name as entry element |
Medicine. |
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| Topical term or geographic name as entry element |
Human genetics. |
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| Topical term or geographic name as entry element |
Biomedicine. |
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| Topical term or geographic name as entry element |
Human Genetics. |
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| Topical term or geographic name as entry element |
Molecular Medicine. |
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|---|
| Topical term or geographic name as entry element |
Biomedicine general. |
| 710 2# - ADDED ENTRY--CORPORATE NAME |
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| Corporate name or jurisdiction name as entry element |
SpringerLink (Online service) |
| 773 0# - HOST ITEM ENTRY |
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| Title |
Springer eBooks |
| 776 08 - ADDITIONAL PHYSICAL FORM ENTRY |
|---|
| Display text |
Printed edition: |
| International Standard Book Number |
9781461437215 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS |
|---|
| Uniform Resource Identifier |
http://dx.doi.org/10.1007/978-1-4614-3722-2 |
| 942 ## - ADDED ENTRY ELEMENTS (KOHA) |
|---|
| Source of classification or shelving scheme |
|
| Item type |
E-Book |
