TIA1 is a gender-specific disease modifier of a mild mouse model of spinal muscular atrophy

Abstract Spinal muscular atrophy (SMA) is caused by deletions or mutations of Survival Motor Neuron 1 (SMN1) gene. The nearly identical SMN2 cannot compensate for SMN1 loss due to exon 7 skipping. The allele C (C +/+) mouse recapitulates a mild SMA-like phenotype and offers an ideal system to monito...

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Auteurs principaux: Matthew D. Howell, Eric W. Ottesen, Natalia N. Singh, Rachel L. Anderson, Joonbae Seo, Senthilkumar Sivanesan, Elizabeth M. Whitley, Ravindra N. Singh
Format: article
Langue:EN
Publié: Nature Portfolio 2017
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Accès en ligne:https://doaj.org/article/52d3ab15d6f44118a9db9e9a35596a5b
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