A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy.
Proc Natl Acad Sci U S A. 1999 May 25;96(11):6307-11. doi: 10.1073/pnas.96.11.6307.
Proc Natl Acad Sci U S A. 1999.
PMID: 10339583
Free PMC article.