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Alternative splicing at a NAGNAG acceptor site as a novel phenotype modifier.
Hinzpeter A, Aissat A, Sondo E, Costa C, Arous N, Gameiro C, Martin N, Tarze A, Weiss L, de Becdelièvre A, Costes B, Goossens M, Galietta LJ, Girodon E, Fanen P. Hinzpeter A, et al. Among authors: costes b. PLoS Genet. 2010 Oct 7;6(10):e1001153. doi: 10.1371/journal.pgen.1001153. PLoS Genet. 2010. PMID: 20949073 Free PMC article.
Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling.
Ratbi I, Legendre M, Niel F, Martin J, Soufir JC, Izard V, Costes B, Costa C, Goossens M, Girodon E. Ratbi I, et al. Among authors: costes b. Hum Reprod. 2007 May;22(5):1285-91. doi: 10.1093/humrep/dem024. Epub 2007 Feb 28. Hum Reprod. 2007. PMID: 17329263
55 results