Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome. [electronic resource]
Producer: 20181211Description: 696-705 p. digitalISSN:- 1537-6605
- Adult
- Alleles
- Amino Acid Sequence
- Carboxypeptidases -- chemistry
- Child
- Child, Preschool
- Collagen -- metabolism
- Connective Tissue -- pathology
- Ehlers-Danlos Syndrome -- genetics
- Female
- Fibroblasts -- metabolism
- Humans
- Male
- Mutation -- genetics
- Protein Domains
- RNA, Messenger -- genetics
- Repressor Proteins -- chemistry
- Skin -- pathology
- Young Adult
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Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
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