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  • Produktbild: Marfan Syndrome
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Marfan Syndrome A Primer for Clinicians and Scientists

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Portrait

Marfan Syndrome is a hereditary disorder of connective tissue which primarily affects the cardiovascular, skeletal, and ocular systems. Remarkable progress in the field has been made in both clinical and basic-science research since the discovery of the gene for fibrillin-1 (FBN1) in 1991, mutations in which cause the Marfan syndrome. Marfan Syndrome: A Primer for Clinicians and Scientists presents a comprehensive overview of clinical aspects of Marfan syndrome, FBN1 mutation analysis, the biology of fibrillin and fibrillin-containing microfibrils, and the molecular pathogenesis of the Marfan syndrome. The authors are prominent and active researchers in clinical and basic-science research on Marfan syndrome and fibrillin.

Produktdetails

Einband

Taschenbuch

Erscheinungsdatum

15.11.2012

Herausgeber

Peter N. Robinson + weitere

Verlag

Springer Us

Seitenzahl

218

Maße (L/B/H)

23,4/15,6/1,3 cm

Gewicht

366 g

Auflage

Softcover reprint of the original 1st ed. 2004

Sprache

Englisch

ISBN

978-1-4613-4757-6

Portrait

Produktdetails

Einband

Taschenbuch

Erscheinungsdatum

15.11.2012

Herausgeber

Verlag

Springer Us

Seitenzahl

218

Maße (L/B/H)

23,4/15,6/1,3 cm

Gewicht

366 g

Auflage

Softcover reprint of the original 1st ed. 2004

Sprache

Englisch

ISBN

978-1-4613-4757-6

Herstelleradresse

Springer-Verlag GmbH
Tiergartenstr. 17
69121 Heidelberg
DE

Email: GPSR Kontakt

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  • Produktbild: Marfan Syndrome
  • Produktbild: Marfan Syndrome
  • Introduction: Historical Introduction The Marfan Syndrome: From Clinical Delineation to Mutational Characterization, a Semiautobiographic Account.- Diagnosis and Treatment of Marfan Syndrome—A Summary.- Orthopaedic Problems in Marfan Syndrome.- Ophthalmological Aspects.- Cardiovascular Aspects of the Marfan Syndrome: A Systematic Review.- Cardiovascular Surgery: Surgical Management of the Marfan Patient at the Johns Hopkins Hospital.- Surgery for Cardiovascular Disorders in Marfan Syndrome: The Atrioventricular Valves, Distal Aortic Segmentsand Myocardium.- Mutation Analysis of the FBN1 Gene in Individuals with Marfan Syndrome: Sensitivity, Methods, Clinical Indications.- The Marfan Mutation Database.- Familial Thoracic Aortic Aneurysms and Dissections.- Fibrillin-2 Mutations in Congenital Contractural Arachnodactyly.- Assembly of Microfibrils.- Organization and Biomechanical Properties of Fibrillin Microfibrils.- Microfibril-AssodatedGlycoprotein-1 (MAGP-1) and Other Non-Fibrillin Macromolecules Which May Possess a Functional Association with the 10 nm Microfibrils.- The Fibrillins and Key Molecular Mechanisms that Initiate Disease Pathways.- Insights into Fibrillin-1 Structure and Function from Domain Studies.- Genetics of Marfan Syndrome in Mouse Models.- Appendix: Marfan Syndrome Patient Organizations.