DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome

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Bibliographic Details
Published in:Journal of medical genetics 2005-04, Vol.42 (4), p.350-357
Main Authors: Correa-Cerro, L S, Wassif, C A, Waye, J S, Krakowiak, P A, Cozma, D, Dobson, N R, Levin, S W, Anadiotis, G, Steiner, R D, Krajewska-Walasek, M, Nowaczyk, M J M, Porter, F D
Format: Article
Language:English
Subjects:
7-dehydrocholesterol
7-dehydrocholesterol reductase
7DHC
Adult
Alleles
Biological and medical sciences
Biosynthesis
Cardiology. Vascular system
Cells, Cultured
Cholesterol
Cholesterol - metabolism
Chromatography
Codon, Nonsense - genetics
Codon, Nonsense - metabolism
DHCR7
Disorders of blood lipids. Hyperlipoproteinemia
DMEM
DNA Mutational Analysis
Dulbecco’s Modified Eagle’s Medium
Female
Fibroblasts
General aspects. Genetic counseling
Genotype
Humans
Infant, Newborn
Letter to JMG
lipoprotein deficient serum
LPDS
Male
Medical genetics
Medical sciences
Metabolic diseases
mRNA nonsense mediated decay
Mutation
NMD
nonsense mediated decay
Oxidoreductases Acting on CH-CH Group Donors - genetics
Oxidoreductases Acting on CH-CH Group Donors - metabolism
Patients
Penicillin
Phenotype
Pregnancy
RNA, Messenger - metabolism
SLOS
Smith-Lemli-Opitz syndrome
Smith-Lemli-Opitz Syndrome - blood
Smith-Lemli-Opitz Syndrome - diagnosis
Smith-Lemli-Opitz Syndrome - genetics
Smith-Lemli-Opitz Syndrome - metabolism
suppression of nonsense mediated decay
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ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.2004.022749