000 | 03358fam a2200361 a 4500 | ||
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001 | 4016705 | ||
003 | OSt | ||
005 | 20170822174959.0 | ||
008 | 940523s1995 moua b 001 0 eng c | ||
010 | _a 94013013 | ||
020 | _a0801664144 | ||
035 | _a(OCoLC)30624793 | ||
035 | _a(OCoLC)ocm30624793 | ||
035 | _a(NNC)4016705 | ||
040 |
_aDNLM/DLC _cBSU _dDLC _dNNC-M |
||
050 | 0 | 0 |
_aRB155 _b.J67 1995 |
060 | 1 | 0 | _aQZ 50 J82m 1995 |
082 | 0 | 0 |
_a616.042 JOR _222 |
100 | 1 |
_aJorde, Lynn B. _915670 |
|
245 | 1 | 0 |
_aMedical genetics / _cLynn B. Jorde, John C. Carey, Raymond L. White. |
260 |
_aSt. Louis : _bMosby, _cc1995. |
||
300 |
_ax, 293 p. : _bill. ; _c28 cm. |
||
504 | _aIncludes bibliographical references and index. | ||
505 | 0 | _a1. Introduction. What is Medical Genetics? Why is a Knowledge of Medical Genetics Important for Today's Practicing Physician? A Brief History. Types of Genetic Diseases. Clinical Impact of Genetic Disease -- 2. Basic Cell Biology: Structure and Function of Genes and Chromosomes. DNA, RNA, and Proteins: Heredity at the Molecular Level. The Structure of Genes and the Genome. The Cell Cycle -- 3. Genetic Variation: Its Origin and Detection. Mutation: The Source of Genetic Variation. Detection and Measurement of Genetic Variation -- 4. Autosomal Dominant and Recessive Inheritance. Basic Concepts of Formal Genetics. Autosomal Dominant Inheritance. Autosomal Recessive Inheritance. Factors that may Complicate Inheritance Patterns. Consanguinity in Human Populations -- 5. Sex-Linked and Mitochondrial Inheritance. X Inactivation. Sex-Linked Inheritance. Sex-Limited and Sex-Influenced Traits. Mitochondrial Inheritance -- 6. Clinical Cytogenetics: The Chromosomal Basis of Human Disease. | |
505 | 0 | _aCytogenetic Technology and Nomenclature. Abnormalities of Chromosome Number. Chromosome Abnormalities and Pregnancy Loss. Abnormalities of Chromosome Structure. Chromosome Abnormalities and Clinical Phenotypes. Cancer Cytogenetics. Chromosome Instability Syndromes -- 7. Gene Mapping. Genetic Mapping. Physical Mapping. Progress Toward a Complete Human Map -- 8. Immunogenetics. The Immune Response: Basic Concepts. Immune Response Proteins: Genetic Basis of Structure and Diversity. The Major Histocompatibility Complex. The ABO and Rh Blood Groups. Immunodeficiency Diseases -- 9. Cancer Genetics. Causes of Cancer. Inherited Cancer Genes. Identification of Inherited Cancer Genes. Molecular Basis of Cancer. Is Genetic Inheritance Important in Common Cancers? -- 10. Multifactorial Inheritance and Common Disease. Principles of Multifactorial Inheritance. Nature and Nurture: Disentangling the Effects of Genes and Environment. The Genetics of Common Diseases. | |
505 | 0 | _a11. Genetic Screening, Genetic Diagnosis, and Gene Therapy. Population Screening for Genetic Disease. Molecular Tools for Screening and Diagnosis. Prenatal Diagnosis of Genetic Disorders and Congenital Defects. Fetal Treatment. Gene Therapy -- 12. Clinical Genetics and Genetic Counseling. The Principles and Practices of Clinical Genetics. Dysmorphology and Clinical Teratology. | |
650 | 0 |
_aMedical genetics. _915671 |
|
650 | 2 |
_aGenetic Diseases, Inborn _xgenetics. _915672 |
|
700 | 1 |
_aCarey, John C., _d1946- _915673 |
|
700 | 1 |
_aWhite, Raymond L., _d1943- _915674 |
|
942 |
_2ddc _cBK |
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999 |
_c7268 _d7268 |