RT Journal Article SR Electronic T1 Incidence and molecular mechanism of aberrant splicing owing to a G→C splice acceptor site mutation causing Smith-Lemli-Opitz syndrome JF Journal of Medical Genetics JO J Med Genet FD BMJ Publishing Group Ltd SP 387 OP 389 DO 10.1136/jmg.37.5.387 VO 37 IS 5 A1 WATERHAM, H R A1 OOSTHEIM, W A1 ROMEIJN, G J A1 WANDERS, R J A A1 HENNEKAM, R C M YR 2000 UL http://jmg.bmj.com/content/37/5/387.abstract AB