Identification of an Alu element-mediated deletion in the promoter region of GNE in siblings with GNE myopathy.
Garland J, Stephen J, Class B, Gruber A, Ciccone C, Poliak A, Hayes CP, Singhal V, Slota C, Perreault J, Gavrilova R, Shrader JA, Chittiboina P, Joe G, Heiss J, Gahl WA, Huizing M, Carrillo N, Malicdan MCV.
Garland J, et al. Among authors: ciccone c.
Mol Genet Genomic Med. 2017 Jun 14;5(4):410-417. doi: 10.1002/mgg3.300. eCollection 2017 Jul.
Mol Genet Genomic Med. 2017.
PMID: 28717665
Free PMC article.