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Donor and acceptor splice signals within an exon of the human fibronectin gene: a new type of differential splicing

✍ Scribed by Karen Vibe-Pedersen; Staffan Magnusson; Francisco E. Baralle


Book ID
115918814
Publisher
Elsevier Science
Year
1986
Tongue
English
Weight
329 KB
Volume
207
Category
Article
ISSN
0014-5793

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Familial hypercholesterolemia (FH) is a genetic disorder caused by mutations in the low density lipoprotein (LDL)-receptor gene. We found a new mutation in the splice acceptor site of intron 1 of the LDL receptor gene, which is designated as 68-1 G->C according to the nomenclature suggested by , in