Mutations in human IFT140 cause non-syndromic retinal degeneration-Reference-Cited by-同舟云学术

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Mutations in human IFT140 cause non-syndromic retinal degeneration

Published:2015-07-28 Issue:10 Volume:134 Page:1069-1078
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Xu Mingchu,Yang Lizhu,Wang Feng,Li Huajin,Wang Xia,Wang Weichen,Ge Zhongqi,Wang Keqing,Zhao Li,Li Hui,Li Yumei,Sui Ruifang,Chen Rui

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-015-1586-x.pdf

Reference56 articles.

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2. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR (2010) A method and server for predicting damaging missense mutations. Nat Methods 7:248–249. doi: 10.1038/nmeth0410-248

3. Arts HH, Bongers EM, Mans DA, van Beersum SE, Oud MM, Bolat E, Spruijt L, Cornelissen EA, Schuurs-Hoeijmakers JH, de Leeuw N, Cormier-Daire V, Brunner HG, Knoers NV, Roepman R (2011) C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome. J Med Genet 48:390–395. doi: 10.1136/jmg.2011.088864

4. Baala L, Romano S, Khaddour R, Saunier S, Smith UM, Audollent S, Ozilou C, Faivre L, Laurent N, Foliguet B, Munnich A, Lyonnet S, Salomon R, Encha-Razavi F, Gubler MC, Boddaert N, de Lonlay P, Johnson CA, Vekemans M, Antignac C, Attie-Bitach T (2007) The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. Am J Hum Genet 80:186–194. doi: 10.1086/510499

5. Badano JL, Kim JC, Hoskins BE, Lewis RA, Ansley SJ, Cutler DJ, Castellan C, Beales PL, Leroux MR, Katsanis N (2003) Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet–Biedl patients with two mutations at a second BBS locus. Hum Mol Genet 12:1651–1659

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