Advances in Human Genetics

Volume 18

Häftad, Engelska, 2011

AvHarry Harris,Kurt Hirschhorn

719 kr

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Produktinformation

Utgivningsdatum2011-10-12
Mått155 x 235 x 23 mm
Vikt616 g
FormatHäftad
SpråkEngelska
SerieAdvances in Human Genetics
Antal sidor406
FörlagSpringer-Verlag New York Inc.
ISBN9781461280811

Tillhör följande kategorier

Medicinsk genetik inom Medicin

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.

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