Smith-Lemli-Opitz syndrome: carrier frequency and spectrum of DHCR7 mutations in Canada. Issue 6 (1st June 2002)

Record Type:: Journal Article
Title:: Smith-Lemli-Opitz syndrome: carrier frequency and spectrum of DHCR7 mutations in Canada. Issue 6 (1st June 2002)
Main Title:: Smith-Lemli-Opitz syndrome: carrier frequency and spectrum of DHCR7 mutations in Canada
Authors:: Waye, J S
Nakamura, L M
Eng, B
Hunnisett, L
Chitayat, D
Costa, T
Nowaczyk, M J M
Abstract:
Is Part Of:: Journal of medical genetics. Volume 39:Issue 6(2002)
Journal:: Journal of medical genetics
Issue:: Volume 39:Issue 6(2002)
Issue Display:: Volume 39, Issue 6 (2002)
Year:: 2002
Volume:: 39
Issue:: 6
Issue Sort Value:: 2002-0039-0006-0000
Page Start:: e31
Page End:: e31
Publication Date:: 2002-06-01
Subjects:: Smith-Lemli-Opitz syndrome -- 7-dehydrocholesterol -- DHCR7 mutations -- carrier frequency
SLOS, Smith-Lemli-Opitz syndrome -- SNP, single nucleotide polymorphism -- ARMS, amplification refractory mutation system
Medical genetics -- Periodicals
616.042
Journal URLs:: http://jmg.bmjjournals.com/ ↗
http://www.bmj.com/archive ↗
DOI:: 10.1136/jmg.39.6.e31 ↗
Languages:: English
ISSNs:: 1468-6244
Deposit Type:: Legaldeposit
View Content:: Available online (eLD content is only available in our Reading Rooms) ↗
Physical Locations:: British Library DSC - BLDSS-3PM
British Library HMNTS - ELD Digital store
Ingest File:: 17773.xml