Alternative splicing of mutant LDL-receptor mRNA in an Italian patient with familial hypercholesterolemia due to a partial deletion of LDL-receptor gene (FHPotenza). [electronic resource]
Producer: 19931109Description: 1347-54 p. digitalISSN:- 0022-2275
- Alternative Splicing
- Base Sequence
- Blotting, Northern
- Blotting, Southern
- DNA Primers
- DNA, Complementary
- Female
- Gene Deletion
- Heterozygote
- Humans
- Hyperlipoproteinemia Type II -- genetics
- Infant
- Italy
- Molecular Sequence Data
- Polymerase Chain Reaction
- RNA, Messenger -- genetics
- Receptors, LDL -- genetics
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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