Species-specific difference in expression and splice-site choice in Inpp5b, an inositol polyphosphate 5-phosphatase paralogous to the enzyme deficient in Lowe Syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s00335-010-9281-7
Reference32 articles.
1. Attree O, Olivos IM, Okabe I, Bailey LC, Nelson DL et al (1992) The Lowe oculocerebrorenal syndrome gene encodes a novel protein highly homologous to inositol polyphosphate-5-phosphatase. Nature 358:239–242
2. Bernard DJ, Nussbaum RL (2010) X-inactivation analysis of embryonic lethality in Ocrl wt/− ;Inpp5b −/− mice. Mamm Genome 21:186–194
3. Bockenhauer D, Bokenkamp A, van’t Hoff W, Levtchenko E, van Kist-Holthe JE et al (2008) Renal phenotype in Lowe Syndrome: a selective proximal tubular dysfunction. Clin J Am Soc Nephrol 3:1430–1436
4. Burset M, Seledtsov IA, Solovyev VV (2001) SpliceDB: database of canonical and non-canonical mammalian splice sites. Nucleic Acids Res 29:255–259
5. Cartegni L, Chew SL, Krainer AR (2002) Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat Rev Genet 3:285–298
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