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Advances in Human Genetics: Volume 18 de Harry Harris

Advances in Human Genetics: Volume 18: Advances in Human Genetics, cartea 18

Editat de Harry Harris, Kurt Hirschhorn
en Limba Engleză Paperback – 12 oct 2011
From reviews of previous volumes in the series: 'Extremely valuable...thoroughly recommended.'-Annals of Human Genetics 'The most lucid and stimulating discussions of the topic to be found anywhere.'-American Scientist
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Specificații

ISBN-13: 9781461280811
ISBN-10: 1461280818
Pagini: 408
Ilustrații: 406 p.
Dimensiuni: 155 x 235 x 21 mm
Greutate: 0.57 kg
Ediția:Softcover reprint of the original 1st ed. 1989
Editura: Springer Us
Colecția Springer
Seria Advances in Human Genetics

Locul publicării:New York, NY, United States

Public țintă

Research

Cuprins

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.

Recenzii

From reviews of earlier volumes: `. . . extremely valuable . . . thoroughly recommended.
Annals of Human Genetics

`The publisher and authors are to be congratulated on bringing so much biochemical material relating to human disease together so efficiently on an annual basis.'
Journal of Applied Biochemistry