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Familial defective apolipoprotein B100: clinical characteristics of 54 cases

✍ Scribed by G. Rauh; C. Keller; B. Kormann; F. Spengel; H. Schuster; G. Wolfram; N. Zöllner

Book ID: 118324250
Publisher: Elsevier Science
Year: 1992
Tongue: English
Weight: 887 KB
Volume: 92
Category: Article
ISSN: 0021-9150
DOI: 10.1016/0021-9150(92)90283-m

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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