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LEADER: 08212cam 2200769Ia 4500
001 ocn300708801
003 OCoLC
005 20210327054756.0
008 090131s1995 cauab ob 001 0 eng d
006 m o d
007 cr cnu---unuuu
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019 $a646758663$a808731150$a1113772762
020 $a9780080568195$q(electronic bk.)
020 $a008056819X$q(electronic bk.)
020 $a0120176327$q(electronic bk.)
020 $a9780120176328$q(electronic bk.)
020 $a1281724963
020 $a9781281724960
020 $a9786611724962
020 $a6611724966
035 $a(OCoLC)300708801$z(OCoLC)646758663$z(OCoLC)808731150$z(OCoLC)1113772762
050 4 $aQH430$b.A38eb vol. 32
072 7 $aSCI$x029000$2bisacsh
082 04 $a576.5$222
245 00 $aAdvances in genetics :$bincorporating molecular genetics medicine.$nVolume 32 /$cedited by Jeffrey C. Hall, Jay C. Dunlap.
260 $aSan Diego :$bAcademic Press,$c©1995.
300 $a1 online resource (xvi, 322 pages) :$billustrations (some color), maps
336 $atext$btxt$2rdacontent
337 $acomputer$bc$2rdamedia
338 $aonline resource$bcr$2rdacarrier
490 1 $aAdvances in genetics ;$v32
504 $aIncludes bibliographical references and index.
588 0 $aPrint version record.
520 $aVolume 32 of Advances in Genetics: Incorporating Molecular Genetic Medicine focuses on important and fast moving subjects in modern human genetics and medicine. This volume also marks the new collaboration with Associate Editors Dr. Theodore Friedmann and Dr. Francesco Giannelli. Chapter 1 considers the potential effectiveness and consequences of gene therapy on subjects over time. Chapter 2 discusses recent research on Gaucher's disease, the first disorder to demonstrate the clinical benefits of enzyme replacement therapy. Chapter 3 describes current findings on diabetes, a disease difficult to conquer due to its variety and its genetic and environmental causes. The major forms of hemophilia and the need for alternative therapies are discussed in Chapter 4. Chapter 5 presents hypercholesterolemia as a model for understanding the causes and treatments of human diseases on a molecular level. Chapter 6 probes the basic genetic defects behind phenylketonuria, as well as the possibilities for genetic correction. Chapter 7 covers the fascinating terminal structures of human chromosomes. In the Foreword to Volume 32, Drs. Friedmann and Giannelli suggest: "Progress toward a thorough characterization of the human genome is stunningly rapid and exceeding many of its earliest expectations. Disease-related genes will be falling from the skies faster than we can understand them, and mechanisms responsible for the pathogenesis of disease will be illuminated more quickly and readily than ever before. "With comprehensive and timely reviews, Advances in Genetics incorporating Molecular Genetic Medicine offers with every volume further insight into this expanding field of medicine, supplementing the continued expert coverage of all other areas of genetics pioneered by 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 * Volume 32 marks new collaboration with Associate Editors Dr. Theodore Friedmann and Dr. Francesco Giannelli.
505 0 $aFront Cover; Advances in Genetics, Volume 32; Copyright Page; Contents; Contributors; Foreword; Preface; Chapter 1. After Gene Therapy: Issues in long-Term Clinical Follow-Up and Care; I. Introduction; II. Assessing the Long-Term Consequences of Somatic Gene Therapy; III. Ongoing Therapy for Adverse Experiences; IV. Ongoing Therapy for Clinical Benefit; V. Informed Consent for Follow-up; VI. Conclusion; References; Chapter 2. Gaucher Disease; I. Introduction; II. Clinical Manifestations of Disease; III. Molecular Biology; IV. Population Genetics; V. Treatment; VI. Unresolved Issues.
505 8 $aVII. ControversiesReferences; Chapter 3. The Genetics of Non-insulin-Dependent Diabetes Mellitus; I. Introduction; II. Natural History of the Development of NIDDM; III. The Role of Genetic Factors in the Etiology of NIDDM; IV. Strategies for Identifying Diabetes-Susceptibility Genes in NIDDM; V. Candidate Genes; VI. The ""Thrifty"" Gene and Silent Polymorphism Hypotheses; VII. Conclusion; References; Chapter 4. The Hemophilias; I. Two Distinct Forms of Hemophilia; II. Genetics of the Hemophilias; III. Factor IX: The Gene and the Protein; IV. The Hemophilia B Mutations.
505 8 $aV. Functional Interpretation of Observed Sequence Changes and Genotype/Phenotype Correlations in Hemophilia BVI. Progress in Carrier and Prenatal Diagnosis of Hemophilia B; VII. Factor VIII: The Gene and the Protein; VIII. Hemophilia A Mutations; IX. Functional Interpretation of Observed Sequence Changes and Genotype/Phenotype Correlations in Hemophilia A; X. Progress in Carrier and Prenatal Diagnosis in Hemophilia A; XI. Contribution of Molecular Biology to Treatment; XII. Conclusion; References.
505 8 $aChapter 5. The Influence of Molecular Biology on our Understanding of Lipoprotein Metabolism and the Pathobiology of AtherosclerosisI. Introduction; II. Background and Historical Perspective; III. Atherosclerosis Research in the Molecular Biology Era; IV. Summary and Future Directions; References; Chapter 6. Molecular Genetics of Phenylketonuria: From Molecular Anthropology to Gene Therapy; I. General Background; II. Characterization of the Human Phenylalanine Hydroxylase Gene; III. Molecular Genetics of PAH-Deficient PKU and Related HPAs; IV. Population Genetics of Phenylketonuria.
505 8 $aV. Gene Therapy for PhenylketonuriaVI. Conclusions; References; Chapter 7. The Proterminal Regions and Telomeres of Human Chromosomes; I. Introduction; II. The Functions of Telomeres and Proterminal Regions; III. The Isolation and Structure of Human Telomeres; IV. The Structure of Proterminal Regions and Telomeres; V. Chromosome Ends from Other Primates; VI. The Role of Proterminal Regions and Telomeres in Senescence, Tumorigenesis, and Genetically Determined Diseases; VII. Conclusions; References; Index.
546 $aEnglish.
650 0 $aGenetics.
650 0 $aMolecular genetics.
650 7 $aSCIENCE$xLife Sciences$xGenetics & Genomics.$2bisacsh
650 7 $aGenetics.$2fast$0(OCoLC)fst00940117
650 7 $aMolecular genetics.$2fast$0(OCoLC)fst01024797
655 4 $aElectronic books.
700 1 $aHall, Jeffrey C.
700 1 $aDunlap, Jay C.
776 08 $iPrint version:$tAdvances in genetics.$dSan Diego : Academic Press, ©1995$z0120176327$z9780120176328$w(OCoLC)41114733
830 0 $aAdvances in genetics ;$vv. 32.
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