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Identification of a heterozygous compound individual with familial hypercholesterolemia and familial defective apolipoprotein B-100

✍ Scribed by Rauh, G. ;Schuster, H. ;Fischer, J. ;Keller, Ch. ;Wolfram, G. ;Zöllner, N.


Publisher
Springer-Verlag
Year
1991
Tongue
English
Weight
621 KB
Volume
69
Category
Article
ISSN
1432-1440

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Familial defective apolipoprotein B-100:
✍ Rauh, G. ;Keller, C. ;Schuster, H. ;Wolfram, G. ;Z�llner, N. 📂 Article 📅 1992 🏛 Springer-Verlag 🌐 English ⚖ 761 KB

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

Familial ligand-defective apolipoprotein
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## Communicated by Michel Goossens Familial ligand-defective apolipoprotein B-100 (FDB) is an autosomal dominant disorder leading to plasma LDL cholesterol elevation and coronary artery disease (CAD). Two specific mutations in the APOB gene-R3500Q and R3531C-induce FDB. We report an original metho