Molecular genetics inclassic Ehlers-Danlos syndrome
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference38 articles.
1. Targeted mutation in the col5a2 gene reveals a regulatory role for type V collagen during matrix assembly
2. Ehlers-Danlos syndromes: Revised nosology, Villefranche, 1997
3. Type V collagen: heterotypic type I/V collagen interactions in the regulation of fibril assembly
4. COL5A1 Exon 14 Splice Acceptor Mutation Causes a Functional Null Allele, Haploinsufficiency of α1(V) and Abnormal Heterotypic Interstitial Fibrils in Ehlers-Danlos Syndrome II
5. The Gene Encoding Collagen α1(V) (COL5A1) Is Linked to Mixed Ehlers-Danlos Syndrome Type I/II
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