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Items: 5

1.

Alternative splicing and retinal degeneration.

Liu MM, Zack DJ.

Clin Genet. 2013 Aug;84(2):142-9. doi: 10.1111/cge.12181. Epub 2013 Jun 5. Review.

2.

Mutation in collagen II alpha 1 isoforms delineates Stickler and Wagner syndrome phenotypes.

Tran-Viet KN, Soler V, Quiette V, Powell C, Yanovitch T, Metlapally R, Luo X, Katsanis N, Nading E, Young TL.

Mol Vis. 2013 Apr 5;19:759-66. Print 2013.

3.

A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa.

Riazuddin SA, Iqbal M, Wang Y, Masuda T, Chen Y, Bowne S, Sullivan LS, Waseem NH, Bhattacharya S, Daiger SP, Zhang K, Khan SN, Riazuddin S, Hejtmancik JF, Sieving PA, Zack DJ, Katsanis N.

Am J Hum Genet. 2010 May 14;86(5):805-12. doi: 10.1016/j.ajhg.2010.04.001. Epub 2010 May 6.

4.

Clinical characterisation and molecular analysis of Wagner syndrome.

Meredith SP, Richards AJ, Flanagan DW, Scott JD, Poulson AV, Snead MP.

Br J Ophthalmol. 2007 May;91(5):655-9. Epub 2006 Oct 11.

5.

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