Novel mutation in the Delta 7-dehydrocholesterol reductase gene in an Australian patient with Smith-Lemli-Opitz syndrome

Authors
Evans, T Poh, A Webb, C Wainwright, B Wicking, C Glass, I Carey, WF Fietz, M
Citation
T. Evans et al., Novel mutation in the Delta 7-dehydrocholesterol reductase gene in an Australian patient with Smith-Lemli-Opitz syndrome, AM J MED G, 103(4), 2001, pp. 344-347
Citations number
20
Categorie Soggetti
Molecular Biology & Genetics
Journal title
AMERICAN JOURNAL OF MEDICAL GENETICS
ISSN journal
01487299 → ACNP
Volume
103
Issue
4
Year of publication
2001
Pages
344 - 347
Database
ISI
SICI code
0148-7299(20011101)103:4<344:NMITD7>2.0.ZU;2-Q