DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome.
Correa-Cerro
L S
LS
Wassif
C A
CA
Waye
J S
JS
Krakowiak
P A
PA
Cozma
D
D
Dobson
N R
NR
Levin
S W
SW
Anadiotis
G
G
Steiner
R D
RD
Krajewska-Walasek
M
M
Nowaczyk
M J M
MJ
Porter
F D
FD
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
D018389:Codon, Nonsense; D012333:RNA, Messenger; D002784:Cholesterol; D044925:Oxidoreductases Acting on CH-CH Group Donors; C019995:7-dehydrocholesterol reductase