Advances in Human Genetics : Volume 18

Language: English

Published by Springer Us Okt 2011, 2011

1461280818 / 9781461280811

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Neuware - 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.…

Seller Inventory # 9781461280811

Title
Advances in Human Genetics : Volume 18
Author
Harry Harris
Publisher
Springer Us Okt 2011
Publication year
2011
Condition
Neu
Binding
Taschenbuch
Language
English
ISBN 10
1461280818
ISBN 13
9781461280811
Item weight
616 grams
Dimensions
235x155x23 mm

AHA-BUCH GmbH

Einbeck, Germany

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