Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen

Peter H. Byers, Madeleine Duvic, Mary Atkinson, Meinhard Robinow, Lynne T. Smith, Stephen M. Krane, Marie T. Greally, Mark Ludman, Reuben Matalon, Susan Pauker, Deborah Quanbeck, Ulrike Schwarze

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Biochemistry, Genetics and Molecular Biology