An introduction to human molecular genetics: mechanisms of inherited diseases
Gespeichert in:
| 1. Verfasser: | |
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| Format: | Elektronisch E-Book |
| Sprache: | English |
| Veröffentlicht: |
Hoboken, N.J.
Wiley-Liss
c2005
|
| Ausgabe: | 2nd ed |
| Schlagworte: | |
| Online-Zugang: | FAW01 FAW02 Volltext |
| Beschreibung: | Includes bibliographical references and index Cover Contents Preface Preface to the First Edition chapter 1 Understanding Human Disease Human Genetic Disease Human Genetics from 1900 to 1957 Eugenics: Genetics Misinterpreted The Molecularization of Genetics Genes and Phenotypes from the human genetics files OMIM: An Important Online Source of Information About Human Genetic Disorders Key Terms Summary References Review Questions chapter 2 The Genetic System: Chromosomes Human Chromosomes Maintaining the Chromosome Number Cell Division Cycle: The Mitotic Process The Meiotic Process Characterizing Human Chromosomes Chromosome Abnormalities Whole Chromosome Changes: Aneuploidy Chromosome Structural Changes from the human genetics files Determining the Phases of the Cell Cycle Key Terms Summary References Review Questions chapter 3 The Genetic System: Mendel s Laws of Inheritance and Genetic Linkage Dominance, Recessiveness, - and Segregation Independent Assortment Genetic Linkage Constructing Genetic Maps Three-Point Cross Chi-Square Distribution: Testing for Significance Multiple Alleles Human Genetics Autosomal Dominant Inheritance Autosomal Recessive Inheritance X-Linked Inheritance Using Pedigrees to Study Human Genetic Disorders from the human genetics files Calculating Mendelian Frequencies Detection and Estimation of Genetic Linkage in Humans The Logarithm of the Likelihood Ratio Method of Linkage Analysis: LOD Score Key Terms Summary References Review Questions chapter 4 The Molecular Biology of the Gene Properties of Genetic Material Structure of DNA DNA Replication Decoding Genetic Information: RNA and Protein Translation Regulation of mRNA Transcription from the human genetics files Hemoglobinopathies and Thalassemias: An Abundance of Mutations Nucleotide Sequence Alteration: Mutation Mutations of Structural Genes Nomenclature for Mutations Dominant Mutations and Genetic Disorders Key Terms - Summary References Review Questions chapter 5 Recombinant DNA Technology Restriction Endonucleases Cloning Vectors Plasmid Cloning Vector pUC19 Screening DNA Constructs by DNA Hybridization In Situ Hybridization Chemical Synthesis of DNA Sequencing DNA Polymerase Chain Reaction Human-Rodent Somatic Cell Hybrids Human DNA Libraries Genomic Libraries Chromosome DNA Libraries from the human genetics files Multicolor Karyotyping: Coloring Chromosomes Region-Specific Chromosome Libraries Constructing a cDNA Library Key Terms Summary References Review Questions chapter 6 Genetic and Physical Mapping of the Human Genome Genetic Mapping of Human Chromosomes Genetic Polymorphism Restriction Fragment Length Polymorphism Short Tandem Repeat Polymorphism Mapping of a Genetic Disease Locus to a Chromosome Location Multilocus Mapping of Human Chromosomes Inserting a Disease Gene into a Linkage Map Homozygosity Mapping Linkage Disequilibrium Mapping Radiation Hybrid Mapping Genotyping - Single-Nucleotide Polymorphisms Physical Mapping of the Human Genome Assembling Contigs from BAC Libraries from the human genetics files Comparative Genetic Maps Integration of Cytogenetic, Genetic, and Physical Maps Key Terms Summary References Review Questions chapter 7 Discovering Human Disease Genes Cloning Human Disease Genes Functional/Candidate Gene Cloning Positional-Candidate Gene Cloning Detection of Mutations in Human Genes Single-Strand Conformation Polymorphism Analysis Denaturing Gradient Gel Electrophoresis Heteroduplex Analysis from the human genetics files Rapid Detection of Unknown Mutations: Capillary Electrophoresis Chemical Mismatch Cleavage Direct DNA Sequencing Protein Truncation Test Key Terms Summary References Review Questions chapter 8 Bioinformatics: Genomics, Functional Genomics, and Proteomics Similarity Search of a DNA Database Functional Genomics DNA Microarray Technology Serial Analysis of Gene Expression Proteomics Separation and Id An Introduction to Human Molecular GeneticsSecond EditionJack J. PasternakThe Second Edition of this internationally acclaimed text expands its coverage of the molecular genetics of inherited human diseases with the latest research findings and discoveries |
| Beschreibung: | 1 Online-Ressource (631 p.) |
| ISBN: | 0471474266 047171917X 0471719188 9780471474265 9780471719175 9780471719182 |
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| 245 | 1 | 0 | |a An introduction to human molecular genetics |b mechanisms of inherited diseases |c Jack J. Pasternak |
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| 264 | 1 | |a Hoboken, N.J. |b Wiley-Liss |c c2005 | |
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| 500 | |a Includes bibliographical references and index | ||
| 500 | |a Cover Contents Preface Preface to the First Edition chapter 1 Understanding Human Disease Human Genetic Disease Human Genetics from 1900 to 1957 Eugenics: Genetics Misinterpreted The Molecularization of Genetics Genes and Phenotypes from the human genetics files OMIM: An Important Online Source of Information About Human Genetic Disorders Key Terms Summary References Review Questions chapter 2 The Genetic System: Chromosomes Human Chromosomes Maintaining the Chromosome Number Cell Division Cycle: The Mitotic Process The Meiotic Process Characterizing Human Chromosomes Chromosome Abnormalities Whole Chromosome Changes: Aneuploidy Chromosome Structural Changes from the human genetics files Determining the Phases of the Cell Cycle Key Terms Summary References Review Questions chapter 3 The Genetic System: Mendel s Laws of Inheritance and Genetic Linkage Dominance, Recessiveness, | ||
| 500 | |a - and Segregation Independent Assortment Genetic Linkage Constructing Genetic Maps Three-Point Cross Chi-Square Distribution: Testing for Significance Multiple Alleles Human Genetics Autosomal Dominant Inheritance Autosomal Recessive Inheritance X-Linked Inheritance Using Pedigrees to Study Human Genetic Disorders from the human genetics files Calculating Mendelian Frequencies Detection and Estimation of Genetic Linkage in Humans The Logarithm of the Likelihood Ratio Method of Linkage Analysis: LOD Score Key Terms Summary References Review Questions chapter 4 The Molecular Biology of the Gene Properties of Genetic Material Structure of DNA DNA Replication Decoding Genetic Information: RNA and Protein Translation Regulation of mRNA Transcription from the human genetics files Hemoglobinopathies and Thalassemias: An Abundance of Mutations Nucleotide Sequence Alteration: Mutation Mutations of Structural Genes Nomenclature for Mutations Dominant Mutations and Genetic Disorders Key Terms | ||
| 500 | |a - Summary References Review Questions chapter 5 Recombinant DNA Technology Restriction Endonucleases Cloning Vectors Plasmid Cloning Vector pUC19 Screening DNA Constructs by DNA Hybridization In Situ Hybridization Chemical Synthesis of DNA Sequencing DNA Polymerase Chain Reaction Human-Rodent Somatic Cell Hybrids Human DNA Libraries Genomic Libraries Chromosome DNA Libraries from the human genetics files Multicolor Karyotyping: Coloring Chromosomes Region-Specific Chromosome Libraries Constructing a cDNA Library Key Terms Summary References Review Questions chapter 6 Genetic and Physical Mapping of the Human Genome Genetic Mapping of Human Chromosomes Genetic Polymorphism Restriction Fragment Length Polymorphism Short Tandem Repeat Polymorphism Mapping of a Genetic Disease Locus to a Chromosome Location Multilocus Mapping of Human Chromosomes Inserting a Disease Gene into a Linkage Map Homozygosity Mapping Linkage Disequilibrium Mapping Radiation Hybrid Mapping Genotyping | ||
| 500 | |a - Single-Nucleotide Polymorphisms Physical Mapping of the Human Genome Assembling Contigs from BAC Libraries from the human genetics files Comparative Genetic Maps Integration of Cytogenetic, Genetic, and Physical Maps Key Terms Summary References Review Questions chapter 7 Discovering Human Disease Genes Cloning Human Disease Genes Functional/Candidate Gene Cloning Positional-Candidate Gene Cloning Detection of Mutations in Human Genes Single-Strand Conformation Polymorphism Analysis Denaturing Gradient Gel Electrophoresis Heteroduplex Analysis from the human genetics files Rapid Detection of Unknown Mutations: Capillary Electrophoresis Chemical Mismatch Cleavage Direct DNA Sequencing Protein Truncation Test Key Terms Summary References Review Questions chapter 8 Bioinformatics: Genomics, Functional Genomics, and Proteomics Similarity Search of a DNA Database Functional Genomics DNA Microarray Technology Serial Analysis of Gene Expression Proteomics Separation and Id | ||
| 500 | |a An Introduction to Human Molecular GeneticsSecond EditionJack J. PasternakThe Second Edition of this internationally acclaimed text expands its coverage of the molecular genetics of inherited human diseases with the latest research findings and discoveries | ||
| 650 | 7 | |a HEALTH & FITNESS / Diseases / Genetic |2 bisacsh | |
| 650 | 7 | |a MEDICAL / Genetics |2 bisacsh | |
| 650 | 4 | |a Genetics, Biochemical | |
| 650 | 4 | |a Genome, Human | |
| 650 | 4 | |a Hereditary Diseases / genetics | |
| 650 | 4 | |a Medizin | |
| 650 | 4 | |a Human molecular genetics | |
| 650 | 4 | |a Genetic disorders | |
| 650 | 0 | 7 | |a Molekulargenetik |0 (DE-588)4039987-4 |2 gnd |9 rswk-swf |
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Datensatz im Suchindex
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|---|---|
| any_adam_object | |
| author | Pasternak, Jack J. |
| author_facet | Pasternak, Jack J. |
| author_role | aut |
| author_sort | Pasternak, Jack J. |
| author_variant | j j p jj jjp |
| building | Verbundindex |
| bvnumber | BV043132712 |
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| ctrlnum | (OCoLC)559956270 (DE-599)BVBBV043132712 |
| dewey-full | 616/.042 |
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| dewey-ones | 616 - Diseases |
| dewey-raw | 616/.042 |
| dewey-search | 616/.042 |
| dewey-sort | 3616 242 |
| dewey-tens | 610 - Medicine and health |
| discipline | Medizin |
| edition | 2nd ed |
| format | Electronic eBook |
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| spelling | Pasternak, Jack J. Verfasser aut An introduction to human molecular genetics mechanisms of inherited diseases Jack J. Pasternak 2nd ed Hoboken, N.J. Wiley-Liss c2005 1 Online-Ressource (631 p.) txt rdacontent c rdamedia cr rdacarrier Includes bibliographical references and index Cover Contents Preface Preface to the First Edition chapter 1 Understanding Human Disease Human Genetic Disease Human Genetics from 1900 to 1957 Eugenics: Genetics Misinterpreted The Molecularization of Genetics Genes and Phenotypes from the human genetics files OMIM: An Important Online Source of Information About Human Genetic Disorders Key Terms Summary References Review Questions chapter 2 The Genetic System: Chromosomes Human Chromosomes Maintaining the Chromosome Number Cell Division Cycle: The Mitotic Process The Meiotic Process Characterizing Human Chromosomes Chromosome Abnormalities Whole Chromosome Changes: Aneuploidy Chromosome Structural Changes from the human genetics files Determining the Phases of the Cell Cycle Key Terms Summary References Review Questions chapter 3 The Genetic System: Mendel s Laws of Inheritance and Genetic Linkage Dominance, Recessiveness, - and Segregation Independent Assortment Genetic Linkage Constructing Genetic Maps Three-Point Cross Chi-Square Distribution: Testing for Significance Multiple Alleles Human Genetics Autosomal Dominant Inheritance Autosomal Recessive Inheritance X-Linked Inheritance Using Pedigrees to Study Human Genetic Disorders from the human genetics files Calculating Mendelian Frequencies Detection and Estimation of Genetic Linkage in Humans The Logarithm of the Likelihood Ratio Method of Linkage Analysis: LOD Score Key Terms Summary References Review Questions chapter 4 The Molecular Biology of the Gene Properties of Genetic Material Structure of DNA DNA Replication Decoding Genetic Information: RNA and Protein Translation Regulation of mRNA Transcription from the human genetics files Hemoglobinopathies and Thalassemias: An Abundance of Mutations Nucleotide Sequence Alteration: Mutation Mutations of Structural Genes Nomenclature for Mutations Dominant Mutations and Genetic Disorders Key Terms - Summary References Review Questions chapter 5 Recombinant DNA Technology Restriction Endonucleases Cloning Vectors Plasmid Cloning Vector pUC19 Screening DNA Constructs by DNA Hybridization In Situ Hybridization Chemical Synthesis of DNA Sequencing DNA Polymerase Chain Reaction Human-Rodent Somatic Cell Hybrids Human DNA Libraries Genomic Libraries Chromosome DNA Libraries from the human genetics files Multicolor Karyotyping: Coloring Chromosomes Region-Specific Chromosome Libraries Constructing a cDNA Library Key Terms Summary References Review Questions chapter 6 Genetic and Physical Mapping of the Human Genome Genetic Mapping of Human Chromosomes Genetic Polymorphism Restriction Fragment Length Polymorphism Short Tandem Repeat Polymorphism Mapping of a Genetic Disease Locus to a Chromosome Location Multilocus Mapping of Human Chromosomes Inserting a Disease Gene into a Linkage Map Homozygosity Mapping Linkage Disequilibrium Mapping Radiation Hybrid Mapping Genotyping - Single-Nucleotide Polymorphisms Physical Mapping of the Human Genome Assembling Contigs from BAC Libraries from the human genetics files Comparative Genetic Maps Integration of Cytogenetic, Genetic, and Physical Maps Key Terms Summary References Review Questions chapter 7 Discovering Human Disease Genes Cloning Human Disease Genes Functional/Candidate Gene Cloning Positional-Candidate Gene Cloning Detection of Mutations in Human Genes Single-Strand Conformation Polymorphism Analysis Denaturing Gradient Gel Electrophoresis Heteroduplex Analysis from the human genetics files Rapid Detection of Unknown Mutations: Capillary Electrophoresis Chemical Mismatch Cleavage Direct DNA Sequencing Protein Truncation Test Key Terms Summary References Review Questions chapter 8 Bioinformatics: Genomics, Functional Genomics, and Proteomics Similarity Search of a DNA Database Functional Genomics DNA Microarray Technology Serial Analysis of Gene Expression Proteomics Separation and Id An Introduction to Human Molecular GeneticsSecond EditionJack J. PasternakThe Second Edition of this internationally acclaimed text expands its coverage of the molecular genetics of inherited human diseases with the latest research findings and discoveries HEALTH & FITNESS / Diseases / Genetic bisacsh MEDICAL / Genetics bisacsh Genetics, Biochemical Genome, Human Hereditary Diseases / genetics Medizin Human molecular genetics Genetic disorders Molekulargenetik (DE-588)4039987-4 gnd rswk-swf Humanbiologie (DE-588)4160775-2 gnd rswk-swf Humanbiologie (DE-588)4160775-2 s Molekulargenetik (DE-588)4039987-4 s 1\p DE-604 http://search.ebscohost.com/login.aspx?direct=true&scope=site&db=nlebk&db=nlabk&AN=133995 Aggregator Volltext 1\p cgwrk 20201028 DE-101 https://d-nb.info/provenance/plan#cgwrk |
| spellingShingle | Pasternak, Jack J. An introduction to human molecular genetics mechanisms of inherited diseases HEALTH & FITNESS / Diseases / Genetic bisacsh MEDICAL / Genetics bisacsh Genetics, Biochemical Genome, Human Hereditary Diseases / genetics Medizin Human molecular genetics Genetic disorders Molekulargenetik (DE-588)4039987-4 gnd Humanbiologie (DE-588)4160775-2 gnd |
| subject_GND | (DE-588)4039987-4 (DE-588)4160775-2 |
| title | An introduction to human molecular genetics mechanisms of inherited diseases |
| title_auth | An introduction to human molecular genetics mechanisms of inherited diseases |
| title_exact_search | An introduction to human molecular genetics mechanisms of inherited diseases |
| title_full | An introduction to human molecular genetics mechanisms of inherited diseases Jack J. Pasternak |
| title_fullStr | An introduction to human molecular genetics mechanisms of inherited diseases Jack J. Pasternak |
| title_full_unstemmed | An introduction to human molecular genetics mechanisms of inherited diseases Jack J. Pasternak |
| title_short | An introduction to human molecular genetics |
| title_sort | an introduction to human molecular genetics mechanisms of inherited diseases |
| title_sub | mechanisms of inherited diseases |
| topic | HEALTH & FITNESS / Diseases / Genetic bisacsh MEDICAL / Genetics bisacsh Genetics, Biochemical Genome, Human Hereditary Diseases / genetics Medizin Human molecular genetics Genetic disorders Molekulargenetik (DE-588)4039987-4 gnd Humanbiologie (DE-588)4160775-2 gnd |
| topic_facet | HEALTH & FITNESS / Diseases / Genetic MEDICAL / Genetics Genetics, Biochemical Genome, Human Hereditary Diseases / genetics Medizin Human molecular genetics Genetic disorders Molekulargenetik Humanbiologie |
| url | http://search.ebscohost.com/login.aspx?direct=true&scope=site&db=nlebk&db=nlabk&AN=133995 |
| work_keys_str_mv | AT pasternakjackj anintroductiontohumanmoleculargeneticsmechanismsofinheriteddiseases |