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A novel point mutation at donor splice-site in intron 42 of type III collagen gene resulting in the inclusion of 30 nucleotides into the mature mRNA in a case of vascular type of Ehlers-Danlos syndrome.
Okita H, Ikeda Y, Mitsuhashi Y, Namikawa H, Kitamura Y, Hamasaki Y, Yamazaki S, Hatamochi A. Okita H, et al. Among authors: hamasaki y. Arch Dermatol Res. 2010 Jul;302(5):395-9. doi: 10.1007/s00403-009-0970-6. Epub 2009 Jun 20. Arch Dermatol Res. 2010. PMID: 19543901
446 results