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Decreased binding of recombinant apolipoprotein (a) to familial defective apolipoprotein B-100 (ARG3500- > GLN)

✍ Scribed by W. März; S. Durovic; S. Frank; H. Scharnagl; M.W. Baumstark; R. Zechner; G.M. Kostner

Book ID: 118326184
Publisher: Elsevier Science
Year: 1995
Tongue: English
Weight: 93 KB
Volume: 115
Category: Article
ISSN: 0021-9150
DOI: 10.1016/0021-9150(95)96583-e

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Familial defective apolipoprotein B-100 (FDB) is a recently identified dominantly inherited genetic disorder characterized by a decreased binding of low density lipoprotein (LDL) to the LDL receptor due to defective apo B-100. FDB is caused by a G to A mutation at nucleotide 10,708 in exon 26 of the