A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy

SMN1 and SMN2 (survival motor neuron) encode identical proteins. A critical question is why only the homozygous loss of SMN1, and not SMN2, results in spinal muscular atrophy (SMA). Analysis of transcripts from SMN1/SMN2 hybrid genes and a new SMN1 mutation showed a direct relationship between prese...

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Autors principals: Lorson, Christian L., Hahnen, Eric, Androphy, Elliot J., Wirth, Brunhilde
Format: Artigo
Idioma:Inglês
Publicat: The National Academy of Sciences 1999
Matèries:
Biological Sciences
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC26877/
https://ncbi.nlm.nih.gov/pubmed/10339583
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