The importance of managing the patient and not the gene: expanded phenotype of GLE1-associated arthrogryposis

GLE1 encodes a protein important for mRNA export and appears to play roles in translation initiation and termination as well. Pathogenic variants in GLE1 mutations have been associated with lethal contracture syndrome and lethal arthrogryposis with anterior horn cell disease; phenotypes reported in...

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Publicado en:Cold Spring Harb Mol Case Stud
Autores principales: Tan, Queenie K.-G., McConkie-Rosell, Allyn, Juusola, Jane, Gustafson, Kathryn E., Pizoli, Carolyn E., Buckley, Anne F., Jiang, Yong-hui
Formato: Artigo
Lenguaje:Inglês
Publicado: Cold Spring Harbor Laboratory Press 2017
Materias:
Research Report
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5701308/
https://ncbi.nlm.nih.gov/pubmed/28729373
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a002063
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