Marfan Syndrome
A Primer for Clinicians and Scientists
(Sprache: Englisch)
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...
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Klappentext zu „Marfan Syndrome “
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.
Inhaltsverzeichnis zu „Marfan Syndrome “
- The Marfan Syndrome: From Clinical Delineation to Mutational Characterization, a Semiautobiographic Account- Diagnosis and Treatment of Marfan Syndrome - 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 Segments and 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-Associated Glycoprotein-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
Bibliographische Angaben
- 2004, 232 Seiten, Maße: 15,7 x 23,5 cm, Gebunden, Englisch
- Herausgegeben: P. N. Robinson, M. Godfrey
- Verlag: Springer Netherlands
- ISBN-10: 030648238X
- ISBN-13: 9780306482380
Sprache:
Englisch
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