COL1A2
Pathology
mutations in Ehlers-Danlos syndrome (partial or complete skipping of exon 6)
mutations in autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome (#15077201#)
mutations in lethal forms of osteogenesis imperfecta (skipping of other exons than exon 6)
References
Schwarze U, Hata R, McKusick VA, Shinkai H, Hoyme HE, Pyeritz RE, Byers PH. Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway. Am J Hum Genet. 2004 May;74(5):917-30. Epub 2004 Apr 09. PMID: #15077201#