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

出版年份 2018 全文链接

标题

作者

关键词

AEBP1, ACLP, aortic carboxypeptidase-like protein, Aebp1, -null mice, Ehlers-Danlos syndrome, connective tissue disorders, extracellular matrix, collagen polymerization, discoidin domain, exome sequencing

出版物

AMERICAN JOURNAL OF HUMAN GENETICS

Volume 102, Issue 4, Pages 696-705

出版商

Elsevier BV

发表日期

2018-03-29

DOI

10.1016/j.ajhg.2018.02.018

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