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

Journal of Biological Chemistry - United States
doi 10.1074/jbc.m011742200
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American Society for Biochemistry & Molecular Biology (ASBMB)