Deletion of the 5'exons of COL4A6 is not needed for the development of diffuse leiomyomatosis in patients with Alport syndrome.
Sá MJ, Fieremans N, de Brouwer AP, Sousa R, e Costa FT, Brito MJ, Carvalho F, Rodrigues M, de Sousa FT, Felgueiras J, Neves F, Carvalho A, Ramos U, Vizcaíno JR, Alves S, Carvalho F, Froyen G, Oliveira JP.
Sá MJ, et al. Among authors: vizcaino jr.
J Med Genet. 2013 Nov;50(11):745-53. doi: 10.1136/jmedgenet-2013-101670. Epub 2013 Aug 19.
J Med Genet. 2013.
PMID: 23958657