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750720s1995 caua ob 001 0 eng d |
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|a QH431.A1
|b A3 1995eb
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|a SCI
|x 029000
|2 bisacsh
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|a 599.93/5
|2 23
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|a Advances in genetics.
|n Volume 33 /
|c edited by Jeffrey C. Hall, Jay C. Dunlap.
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260 |
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|a San Diego :
|b Academic Press,
|c 1995.
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300 |
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|a 1 online resource (xi, 336 pages) :
|b illustrations, diagrams.
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336 |
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|a text
|b txt
|2 rdacontent
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|a computer
|b c
|2 rdamedia
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|a online resource
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|a Advances in genetics ;
|v 33
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|a Includes bibliographical references and index.
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|a Print version record.
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|a Advances in Genetics increases its focus on modern human genetics and its relation to medicine with Volume 33 of this long-standing serial. The recent merger of Molecular Genetic Medicine with Advances in Genetics affirms the Academic Press commitment to publish important reviews of the broadest interest to geneticists and their colleagues in affiliated disciplines. In this volume, Petes and Pukkila synthesize the latest research on meiotic recombination, with specific reference to crossover and gene conversions. The "absurd size and complex" structure of the Dystrophin gene is considered in another chapter, with discussions of strategies for future diagnosis and treatment of muscular dystrophy. Two chapters also examine the molecular genetics of sex determination, including the influence of maternal age and resulting chromosomal aberrations. Volume 33 also includes a review of the PAX and HOX gene families and their links to the developmental process, cellular growth control, and forms of cancer. Case studies of thrombophilia, Menkes, and Wilson diseases are used to exemplify the genetic disorders of blood clotting, copper deficiency, and toxicity, respectively. Triman takes a genetic approach to understanding the function of ribosomal RNA using E. coli as the model best able to reveal the inherent complications of the translation process. Leach and O'Connell describe the use of radiation hybrids for constructing high-resolution maps of the human genome. With these reviews the alliance of Molecular Genetic Medicine with Advances in Genetics is completed under the banner of Advances in Genetics. Key Features * Presents technical and historical overviews of molecular biology applied to disease detection, diagnosis, and treatment * Chronicles the continuing explosion of knowledge in molecular genetic medicine by highlighting current approaches to understanding human illness * Documents the revolution in human and molecular genetics leading to a new field of medicine * This volume highlights Analysis of human chromosomes with chapters on pathology of sex determination and numerical chromosomal abnormalities Molecular and genetic bases of muscular dystrophy and Menkes and Wilson diseases Techniques including FISH, IRS-PCR, and radiation hybrids.
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|a Front Cover; Advances in Genetics: Incorporating Molecular Genetic Medicine; Copyright Page; Contents; Contributors; Preface; Chapter 1. Mutational Analysis of 16S Ribosomal RNA Structure and Function in Escherichia coli; I. Introduction; II. Methods of Detection of rRNA Mutants in Escherichia coli; III. Mutational Analysis of 16S rRNA Structure and Function; IV. Conclusions; References; Chapter 2. Meiotic Sister Chromatid Recombination; I. Introduction; II. Genetic and Physical Analyses of Meiotic Sister Chromatid Recombination; III. Genetic Control of Sister Chromatid Recombination
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|a IV. Cytological Analyses of Sister Chromatid Exchange during MeiosisV. The Sister Chromatid Paradox: How Are Sister Chromatids Distinguished from Nonsister Chromatids?; References; Chapter 3. Mapping of Mammalian Genomes with Radiation (Goss and Harris) Hybrids; I. Introduction; II. Key Advances in Somatic Cell Genetics; III. Experiments of Goss and Harris; IV. Extension of Goss and Harris' Experiments; V. Construction of Radiation Hybrids; VI. Analysis of Human Component in Radiation Hybrids; VII. Statistical Analysis for Radiation Hybrid Data
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|a VIII. Radiation Hybrid Maps in Other Mammalian SpeciesIX. Summary and Future Direction; References; Chapter 4. The Origin of Numerical Chromosome Abnormalities; I. Introduction; II. The Incidence of Monosomy and Trisomy; III. The Etiology of Monosomy and Trisomy; IV. Parental Origin; V. Cell Division of Origin; VI. 45,X Aneuploidy; VII. 47,XXY and 47,XXX Aneuploidy; VIII. 47,XYY Aneuploidy; IX. Sex Chromosome Polysomy; X. Trisomy 21; XI. Trisomy 18; XII. Trisomy 16; XIII. Trisomy 13, 14, 15, and 22; XIV. Comparison of Mechanisms of Origin of Trisomy
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|a XV. The Frequency of Disomic Gametes for Chromosomes X, 16, 18, and 21XVI. Conclusions; References; Chapter 5. Thrombophilia: The Discovery of Activated Protein C Resistance; I. Introduction; II. Protein C-A Vitamin K-Dependent Protein with Anticoagulant Properties; III. Thrombomodulin-A Modulator of Thrombin Function; IV. Protein S-A Vitamin K-Dependent Cofactor to Activated Protein C; V. Interaction between Protein S and C4b-Binding Protein; VI. Thromboembolism Associated with Deficiencies of Protein C or Protein S; VII. Discovery of Activated Protein C Resistance
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|a VIII. APC Resistance as a Basis for Thromboembolic DiseaseIX. Elucidation of the Molecular Basis of APC Resistance; X. High Prevalence of APC Resistance in the Population; XI. Concluding Remarks; References; Chapter 6. Dystrophin, Its Gene, and the Dystrophinopathies; I. Introduction; II. Duchenne and Becker Muscular Dystrophy; III. The Dystrophin Gene; IV. The Dystrophin Protein; V. Dystrophin-Associated Proteins and Their Deficiencies; VI. Mutational Spectra and Molecular Etiology; VII. Carrier and Prenatal Diagnosis in DMD/BMD
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546 |
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|a English.
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650 |
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0 |
|a Genetics.
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650 |
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|a Human genetics.
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650 |
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2 |
|a Genetics
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650 |
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6 |
|a G�en�etique.
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|a G�en�etique humaine.
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|a genetics.
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|a SCIENCE
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|x Genetics & Genomics.
|2 bisacsh
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650 |
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|a Genetics
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|
650 |
|
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|a Human genetics
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700 |
1 |
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|a Hall, Jeffrey C.
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700 |
1 |
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|a Dunlap, Jay C.
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776 |
0 |
8 |
|i Print version:
|t Advances in genetics.
|d San Diego : Academic Press, �1995
|z 0120176335
|z 9780120176335
|w (OCoLC)41114732
|
830 |
|
0 |
|a Advances in genetics ;
|v v. 33.
|
856 |
4 |
0 |
|u https://sciencedirect.uam.elogim.com/science/book/9780120176335
|z Texto completo
|