𝔖 Bobbio Scriptorium
✦   LIBER   ✦

An 87 bp deletion in exon 5 of the LDL receptor gene in a mother and her son with familial hypercholesterolemia

✍ Scribed by Gregor Schlüter; Ursula Wick


Book ID
115091488
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
406 KB
Volume
45
Category
Article
ISSN
0009-9163

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Duplication of exons 13, 14 and 15 of th
✍ N. Lelli; M. Ghisellini; S. Calandra; A. Gaddi; A. Ciarrocchi; D. A. Coviello; S 📂 Article 📅 1991 🏛 Springer 🌐 English ⚖ 674 KB

During a survey of Italian patients with familial hypercholesterolemia (FH), we identified an FH heterozygous patient with a gross rearrangement of the low density lipoprotein (LDL) receptor gene. Southern blot analysis of the proband's DNA digested with restriction enzymes PvuII, BamHI, BglII and X