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A splice mutation in a Syrian autosomal recessive hypercholesterolemia family causes a two-nucleotide deletion of mRNA

Official URL:https://doi.org/10.1161/01.RES.0000089508.53350.70
PubMed:View item in PubMed
Creators Name:Al Kateb, H. and Bautz, E.K.F. and Luft, F.C. and Baehring, S.
Journal Title:Circulation Research
Journal Abbreviation:Circ Res
Volume:93
Number:5
Page Range:E49-E50
Date:5 September 2003
Keywords:Alternative Splicing, Base Sequence, Complementary DNA, Cultured Tumor Cells, DNA Mutational Analysis, Hyperlipoproteinemia Type II, Mutation, Messenger RNA, Recessive Genes, Sequence Deletion, Signal Transducing Adaptor Proteins, Syria, Transfection, Vesicular Transport Adaptor Proteins
ISSN:0009-7330
Publisher:American Heart Association (U.S.A.)
Item Type:Letter

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