Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome

Published 2018 View Full Article

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Title
Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome
Authors
Keywords
AEBP1, ACLP, aortic carboxypeptidase-like protein, Aebp1, -null mice, Ehlers-Danlos syndrome, connective tissue disorders, extracellular matrix, collagen polymerization, discoidin domain, exome sequencing
Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 102, Issue 4, Pages 696-705
Publisher
Elsevier BV
Online
2018-03-29
DOI
10.1016/j.ajhg.2018.02.018

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