Correct splicing despite mutation of the invariant first nucleotide of a 5’splice site: A possible basis for disparate clinical phenotypes in siblings with adenosine deaminase deficiency - Arredondo-Vega, FX; Santisteban, I; Kelly, S; Schlossman, CM; Umetsu, DT; Hershfield, MS (Am J Hum Genet, 1994)