regSNPs-splicing: a tool for prioritizing synonymous single-nucleotide substitution-Reference-Cited by-同舟云学术

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regSNPs-splicing: a tool for prioritizing synonymous single-nucleotide substitution

Published:2017-04-08 Issue:9 Volume:136 Page:1279-1289
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Zhang Xinjun,Li Meng,Lin Hai,Rao Xi,Feng Weixing,Yang Yuedong,Mort Matthew,Cooper David N.,Wang Yue,Wang Yadong,Wells Clark,Zhou Yaoqi,Liu Yunlong

Funder

National Institutes of Health

National High-Tech Research and Development Program

National Cancer Institute

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/article/10.1007/s00439-017-1783-x/fulltext.html

Reference45 articles.

1. Akiyama M, Titeux M, Sakai K, McMillan JR, Tonasso L, Calvas P, Jossic F, Hovnanian A, Shimizu H (2007) DNA-based prenatal diagnosis of harlequin ichthyosis and characterization of ABCA12 mutation consequences. J Invest Dermatol 127:568–573

2. Banerjee I, Skae M, Flanagan SE, Rigby L, Patel L, Didi M, Blair J, Ehtisham S, Ellard S, Cosgrove KE et al (2011) The contribution of rapid KATP channel gene mutation analysis to the clinical management of children with congenital hyperinsulinism. Eur J Endocrinol 164:733–740

3. Baralle D, Baralle M (2005) Splicing in action: assessing disease causing sequence changes. J Med Genet 42:737–748

4. Barash Y, Calarco JA, Gao W, Pan Q, Wang X, Shai O, Blencowe BJ, Frey BJ (2010) Deciphering the splicing code. Nature 465:53–59

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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