𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A novel point mutation (Pro84 ← Ser) of the low density lipoprotein receptor gene in a family with moderate hypercholesterolemia

✍ Scribed by Alpo F. Vuorio; Hannu Turtola; Kimmo Kontula


Book ID
110887607
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
527 KB
Volume
51
Category
Article
ISSN
0009-9163

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


A novel deletion/inversion mutation in t
✍ Ulla-Maija Koivisto; Kimmo Kontula 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 896 KB

## Communicated fq L e n a Peltonen A combined deletiodinversion rearrangement of the LDL receptor gene was discovered in a Finnish patient with heterozygous familial hypercholesterolemia (FH). Sequence analysis of the mutated allele revealed an insertion of 4 nucleotides in exon 11, caused by a c

Identification of a mutation in the low
✍ Hasler-Rapacz, Judith; Ellegren, Hans; Fridolfsson, Anna-Karin; Kirkpatrick, Bri 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 25 KB 👁 2 views

Elevated blood plasma cholesterol (hypercholesterolemia) is a major risk factor for coronary artery disease (CAD) in humans. Genetic dissection of polygenic lipid and lipoprotein disorders in swine, a key animal model for the study of familial hypercholesterolemia (FH) and CAD, led to the isolation