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Marfan Syndrome: A Primer for Clinicians and Scientists

Marfan Syndrome: A Primer for Clinicians and Scientists

Paperback

Series: Medical Intelligence Unit (Unnumbered)

Medical ReferenceGenetics

ISBN10: 1461347572
ISBN13: 9781461347576
Publisher: Springer Nature
Published: Nov 15 2012
Pages: 218
Weight: 0.74
Height: 0.50 Width: 6.14 Depth: 9.21
Language: English

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.

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