The American Journal of Human Genetics
Volume 65, Issue 4, October 1999, Pages 1007-1020
Cysteine Substitutions in Epidermal Growth Factor–Like Domains of Fibrillin-1: Distinct Effects on Biochemical and Clinical Phenotypes
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Marfan syndrome
Fibrillin
Epidermal growth factor–like domain
EGF-like domain (see Epidermal growth factor–like domain)
Fibrillinopathy
Aortic aneurysm
Pulse-chase assay
Mutation detection
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The first two authors contributed equally to this work.
Copyright © 1999 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.