Myofibrillar myopathy in the genomic context
Author:
Funder
Narodowe Centrum Nauki
Publisher
Springer Science and Business Media LLC
Subject
Genetics,General Medicine
Link
http://link.springer.com/article/10.1007/s13353-018-0463-4/fulltext.html
Reference67 articles.
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2. Badano JL, Katsanis N (2002) Beyond Mendel: an evolving view of human genetic disease transmission. Nat Rev Genet 3:779–789. https://doi.org/10.1038/nrg910
3. Baker J, Riley G, Romero MR et al (2010) Identification of a Z-band associated protein complex involving KY, FLNC and IGFN1. Exp Cell Res 316:1856–1870. https://doi.org/10.1016/j.yexcr.2010.02.027
4. Beatham J, Romero R, Townsend SKM et al (2004) Filamin C interacts with the muscular dystrophy KY protein and is abnormally distributed in mouse KY deficient muscle fibres. Hum Mol Genet 13:2863–2874. https://doi.org/10.1093/hmg/ddh308
5. Blanco G, Coulton GR, Biggin A et al (2001) The kyphoscoliosis (ky) mouse is deficient in hypertrophic responses and is caused by a mutation in a novel muscle-specific protein. Hum Mol Genet 10:9–16
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