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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Pubblicato in:	Proc Natl Acad Sci U S A
Autori principali:	Lorson, Christian L., Hahnen, Eric, Androphy, Elliot J., Wirth, Brunhilde
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	National Academy of Sciences 1999
Soggetti:	Biological Sciences
Accesso online:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC26877/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/10339583/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.96.11.6307
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