A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy.
Lorson CL, Hahnen E, Androphy EJ, Wirth B
Proc Natl Acad Sci U S A. 1999 May 25;96(11):6307-11. PubMed
Lorson CL, Hahnen E, Androphy EJ, Wirth B
Proc Natl Acad Sci U S A. 1999 May 25;96(11):6307-11. PubMed