Smith-Lemli-Opitz syndrome: carrier frequency and spectrum of DHCR7 mutations in Canada

• 1 June 2002
• journal article
• research article
• Published by BMJ in Journal of Medical Genetics
• Vol. 39  (6) , 31e-31
• https://doi.org/10.1136/jmg.39.6.e31

Abstract

Keywords

• SMITH-LEMLI-OPITZ SYNDROME
• 7-DEHYDROCHOLESTEROL
• DHCR7 MUTATIONS
• CARRIER FREQUENCY
• SLOS
• SNP
• SINGLE NUCLEOTIDE POLYMORPHISM
• ARMS
• AMPLIFICATION REFRACTORY MUTATION SYSTEM