Exome sequencing reveals a nebulin nonsense mutation in a dog model of nemaline myopathy-Reference-Cited by-同舟云学术

Exome sequencing reveals a nebulin nonsense mutation in a dog model of nemaline myopathy

Published:2016-05-23 Issue:9-10 Volume:27 Page:495-502
ISSN:0938-8990
Container-title:Mammalian Genome
language:en
Short-container-title:Mamm Genome

Author:

Evans Jacquelyn M.,Cox Melissa L.,Huska Jonathan,Li Frank,Gaitero Luis,Guo Ling T.,Casal Margaret L.,Granzier Henk L.,Shelton G. Diane,Clark Leigh Anne

Funder

National Institute of Arthritis and Musculoskeletal and Skin Diseases

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00335-016-9644-9.pdf

Reference35 articles.

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2. Ahram DF, Grozdanic SD, Kecova H, Henkes A, Collin RW, Kuehn MH (2015) Variants in nebulin (NEB) are linked to the development of familial primary angle closure glaucoma in Basset hounds. PLoS One 10:e0126660

3. Anderson SL, Ekstein J, Donnelly MC, Keefe EM, Toto NR, LeVoci LA, Rubin BY (2004) Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene. Hum Genet 115:185–190

4. Bang ML, Li X, Littlefield R, Bremner S, Thor A, Knowlton KU, Lieber RL, Chen J (2006) Nebulin-deficient mice exhibit shorter thin filament lengths and reduced contractile function in skeletal muscle. J Cell Biol 173:905–916

5. Broeckx BJG, Coopman F, Verhoeven GEC, Bavegems V, De Keulenaer S, De Meester E, Van Niewerburgh F, Deforce D (2014) Development and performance of a targeted whole exome sequencing enrichment kit for the dog (Canis Familiaris Build 31). Sci Rep 4:5597

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