Advances in Human Genetics Volume 18
| Other Authors: | , |
|---|---|
| Format: | eBook |
| Language: | English |
| Published: |
New York, NY
Springer US
1989, 1989
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| Edition: | 1st ed. 1989 |
| Series: | Advances in Human Genetics
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| Subjects: | |
| Online Access: | |
| Collection: | Springer Book Archives -2004 - Collection details see MPG.ReNa |
Table of Contents:
- 1 The Molecular Basis of HLA—Disease Association
- Function and Nomenclature
- Genomic Organization
- Class II Sequence Polymorphism
- Structural Consideration
- HLA and Disease
- Hybrid Molecules and Transassociation
- Disease-Associated Class II Sequences
- Mechanisms of Class II-Mediated Disease Susceptibility
- References
- 2 Chromosome Instability Syndromes
- Clinical Descriptions
- Cytogenetic Findings
- Heterogeneity and Complementation
- Heterozygote Detection
- Prenatal Diagnosis
- Molecular Considerations
- Conclusion
- References
- 3 Lacticacidemia: Biochemical, Clinical, and Genetic Considerations
- The Biochemical Basis of Lacticacidemia
- Pyruvate Carboxylase Deficiency
- Respiratory Chain Defects
- The Genetics of Lacticacidemia
- References
- 4 A Comprehensive and Critical Assessment of Overgrowth and Overgrowth Syndromes
- Infants of Diabetic Mothers
- Infant Giants
- Beckwith—Wiedemann Syndrome
- Hemihyperplasia (Hemihypertrophy)
- Sotos Syndrome
- Nevo Syndrome
- Bannayan—Riley—Ruvalcaba Syndrome
- Weaver Syndrome
- Marshall—Smith Syndrome
- Elejalde Syndrome
- Simpson—Golabi—Behmel Syndrome
- Proteus Syndrome
- Miscellaneous Conditions with Overgrowth
- References
- 5 Genetics of Growth Hormone and Its Disorders
- Human Growth Hormone and Related Hormones
- Human Growth Hormone Gene Cluster
- Genetic Disorders of hGH and hCSH Synthesis or Action
- Recombinant hGH
- Future Studies on hGH and Related Genes
- References
- Addenda