An FBN1 pseudoexon mutation in a patient with Marfan syndrome: confirmation of cryptic mutations leading to disease

Published 2008 View Full Article

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Title
An FBN1 pseudoexon mutation in a patient with Marfan syndrome: confirmation of cryptic mutations leading to disease
Authors
Keywords
-
Journal
JOURNAL OF HUMAN GENETICS
Volume 53, Issue 11-12, Pages 1007-1011
Publisher
Springer Nature
Online
2008-09-16
DOI
10.1007/s10038-008-0334-7

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