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

Nemaline myopathy (NM) is a congenital muscle disorder associated with muscle weakness, hypotonia, and rod bodies in the skeletal muscle fibers. Mutations in 10 genes have been implicated in human NM, but spontaneous cases in dogs have not been genetically characterized. We identified a novel recess...

Ful tanımlama

Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:Mamm Genome
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2016
Konular:
Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC5100356/
https://ncbi.nlm.nih.gov/pubmed/27215641
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00335-016-9644-9
Etiketler: Etiketle
Etiket eklenmemiş, İlk siz ekleyin!

Benzer Materyaller