𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A ‘de novo’ point mutation of the low-density lipoprotein receptor gene in an Italian subject with primary hypercholesterolemia

✍ Scribed by S. Cassanelli; S. Bertolini; M. Rolleri; F De Stefano; L. Casarino; N. Elicio; A. Naselli; S. Calandra


Book ID
110887788
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
773 KB
Volume
53
Category
Article
ISSN
0009-9163

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Low density lipoprotein receptor (LDLR)
✍ Jian Wang; Erin Huff; Lenny Janecka; Robert A. Hegele 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 20 KB 👁 1 views

Heterozygous familial hypercholesterolemia (FH) is a relatively common autosomal dominant disorder, which is characterized by elevated plasma concentrations of low density lipoprotein (LDL) cholesterol and early coronary heart disease. FH results from mutations in the gene encoding the LDL receptor

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

A new missense mutation (Cys297→Phe) of
✍ N. Lelli; R. Garuti; P. Pedrazzi; M. Ghisellini; M. L. Simone; R. Tiozzo; L. Cat 📂 Article 📅 1994 🏛 Springer 🌐 English ⚖ 561 KB

During a survey of the mutations of the low density lipoprotein receptor (LDL-R) gene in Italian patients with familial hypercholesterolemia (FH), we identified a novel point mutation, that creates a new EcoRI site at the 5" end of exon 7, in a heterozygous FH subject (FH-100). The sequence of a cDN