DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome
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Overview
status
publication date
- April 1, 2005
has subject area
- 06 Biological Sciences (FoR)
- 11 Medical and Health Sciences (FoR)
- Adult (MeSH)
- Alleles (MeSH)
- Cells, Cultured (MeSH)
- Cholesterol (MeSH)
- Codon, Nonsense (MeSH)
- DNA Mutational Analysis (MeSH)
- Female (MeSH)
- Genetics & Heredity (Science Metrix)
- Genotype (MeSH)
- Humans (MeSH)
- Infant, Newborn (MeSH)
- Male (MeSH)
- Oxidoreductases Acting on CH-CH Group Donors (MeSH)
- Phenotype (MeSH)
- Pregnancy (MeSH)
- RNA, Messenger (MeSH)
- Smith-Lemli-Opitz Syndrome (MeSH)
published in
- Journal of Medical Genetics Journal