Identification of an ultra-rare Alu insertion in the CFTR gene: Pitfalls and challenges in genetic test interpretation
Author:
Funder
Ministero dell'Istruzione dell'Università e della Ricerca
Publisher
Elsevier BV
Reference28 articles.
1. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA - PubMed, Science (New York, N.Y.) 245(4922) (09/08/1989).
2. DNA sequencing with chain-terminating inhibitors - PubMed, Proc. Natl. Acad. Sci. U. S. A. 74(12) (1977 Dec).
3. Next-generation DNA sequencing - PubMed, Nat. Biotechnol. 26(10) (2008 Oct).
4. Detection of two Alu insertions in the CFTR gene - PubMed, J. Cystic Fibrosis : Off. J. Eur. Cystic Fibrosis Soc. 7(1) (2008 Jan).
5. Mobile elements and mammalian genome evolution - PubMed, Curr. Opin. Genet. Dev. 13(6) (2003 Dec).
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