Incidence and molecular mechanism of aberrant splicing owing to a G -> C splice acceptor site mutation causing Smith-Lemli-Opitz syndrome

Authors
Waterham, HR Oostheim, W Romeijn, GJ Wanders, RJA Hennekam, RCM
Citation
Hr. Waterham et al., Incidence and molecular mechanism of aberrant splicing owing to a G -> C splice acceptor site mutation causing Smith-Lemli-Opitz syndrome, J MED GENET, 37(5), 2000, pp. 387-389
Citations number
11
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology","Molecular Biology & Genetics
Journal title
JOURNAL OF MEDICAL GENETICS
ISSN journal
00222593 → ACNP
Volume
37
Issue
5
Year of publication
2000
Pages
387 - 389
Database
ISI
SICI code
0022-2593(200005)37:5<387:IAMMOA>2.0.ZU;2-D