How the discovery of ISS-N1 led to the first medical therapy for spinal muscular atrophy
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics,Molecular Biology,Molecular Medicine
Link
https://www.nature.com/articles/gt201734.pdf
Reference80 articles.
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3. Lefebvre S, Bürglen L, Reboullet S, Clermont O, Burlet P, Viollet L et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995; 80: 155–165.
4. Wirth B . An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA). Hum Mutat 2000; 15: 228–237.
5. Singh RN, Howell MD, Ottesen EW, Singh NN . Diverse role of survival motor neuron protein. Biochim Biophys Acta 2017; 1860: 299–315.
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