COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome

Title
COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome
Authors
Keywords
-
Journal
HUMAN MUTATION
Volume 30, Issue 2, Pages E395-E403
Publisher
Wiley
Online
2008-10-29
DOI
10.1002/humu.20887

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