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Four Novel FBN1 Mutations: Significance for Mutant Transcript Level and EGF-like Domain Calcium Binding in the Pathogenesis of Marfan Syndrome
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Publications
Four Novel FBN1 Mutations: Significance for Mutant Transcript Level and EGF-like Domain Calcium Binding in the Pathogenesis of Marfan Syndrome
Four Novel FBN1 Mutations: Significance for Mutant Transcript Level and EGF-like Domain Calcium Binding in the Pathogenesis of Marfan Syndrome
HD
Harry C. Dietz
Harry C. Dietz
IM
Iain McIntosh
Iain McIntosh
LS
Lynn Y. Sakai
Lynn Y. Sakai
GC
Glen M. Corson
Glen M. Corson
SC
Stephen C. Chalberg
Stephen C. Chalberg
RP
Reed E. Pyeritz
Reed E. Pyeritz
CF
Clair A. Francomano
Clair A. Francomano
Open Access
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1 August 1993
journal article
Published by
Elsevier
in
Genomics
Vol. 17
(2)
,
468-475
https://doi.org/10.1006/geno.1993.1349
Abstract
No abstract available
Keywords
GLYCOPROTEIN
MUTATIONS
FIBRILLIN
EGF
CALCIUM BINDING
LIKE DOMAINS
FBN1
MARFAN
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