title: DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome.
authors.forename: L S
authors.initials: LS
authors.lastname: Correa-Cerro
authors.forename: C A
authors.initials: CA
authors.lastname: Wassif
authors.forename: J S
authors.initials: JS
authors.lastname: Waye
authors.forename: P A
authors.initials: PA
authors.lastname: Krakowiak
authors.forename: D
authors.initials: D
authors.lastname: Cozma
authors.forename: N R
authors.initials: NR
authors.lastname: Dobson
authors.forename: S W
authors.initials: SW
authors.lastname: Levin
authors.forename: G
authors.initials: G
authors.lastname: Anadiotis
authors.forename: R D
authors.initials: RD
authors.lastname: Steiner
authors.forename: M
authors.initials: M
authors.lastname: Krajewska-Walasek
authors.forename: M J M
authors.initials: MJ
authors.lastname: Nowaczyk
authors.forename: F D
authors.initials: FD
authors.lastname: Porter
mesh_terms: D000328:Adult; D000483:Alleles; D002478:Cells, Cultured; D002784:Cholesterol / Q000378:metabolism; D018389:Codon, Nonsense / Q000235:genetics / Q000378:metabolism*; D004252:DNA Mutational Analysis; D005260:Female; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D044925:Oxidoreductases Acting on CH-CH Group Donors / Q000235:genetics* / Q000378:metabolism; D010641:Phenotype; D011247:Pregnancy; D012333:RNA, Messenger / Q000378:metabolism*; D019082:Smith-Lemli-Opitz Syndrome / Q000097:blood / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism
chemical_list: D018389:Codon, Nonsense; D012333:RNA, Messenger; D002784:Cholesterol; D044925:Oxidoreductases Acting on CH-CH Group Donors; C019995:7-dehydrocholesterol reductase