✦ LIBER ✦

Evidence for a cholesterol-lowering gene in a French-Canadian kindred with familial hypercholesterolemia

✍ Scribed by Catherine Sass; Louise-Marie Giroux; Yuanhong Ma; Madeleine Roy; Jacques Lavigne; Suzanne Lussier-Cacan; Jean Davignon; Anne Minnich

Publisher: Springer
Year: 1995
Tongue: English
Weight: 644 KB
Volume: 96
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00214181

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Molecular genetic evidence for a founder

Molecular genetic evidence for a founder effect in familial hypercholesterolemia among French Canadians

✍ Christine Bétard; A. M. Kessling; M. Roy; A. Chamberland; S. Lussier-Cacan; J. D 📂 Article 📅 1992 🏛 Springer 🌐 English ⚖ 786 KB

Familial hypercholesterolemia (FH), at a prevalence of about 1 in 200 in the French-Canadian population, is caused by a 10-kb deletion in the low-density lipoprotein (LDL) receptor gene in 60% of French-Canadian FH heterozygotes. We genotyped 159 FH patients who carry this common mutation and 221 he

Low density lipoprotein receptor (LDLR)

Low density lipoprotein receptor (LDLR) gene mutations in Canadian subjects with familial hypercholesterolemia, but not of French descent

✍ 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

Homozygosity for the met30 transthyretin

Homozygosity for the met30 transthyretin gene in a Turkish kindred with familial amyloidotic polyneuropathy

✍ James Skare; Hasan Yazici; Eren Erken; Hulya Dede; Alan Cohen; Aubrey Milunsky; 📂 Article 📅 1990 🏛 Springer 🌐 English ⚖ 230 KB

Identification of a mutation, N543H, in

Identification of a mutation, N543H, in exon 11 of the low-density lipoprotein receptor gene in a French family with familial hypercholesterolemia

✍ F. Tricot-Guerber; B. Saint-Jore; K. Valenti; T. Foulon; M. Bost; A. J. Hadjian 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 183 KB

MRI at 3 Tesla detects no evidence for i

MRI at 3 Tesla detects no evidence for ischemic brain damage in intensively treated patients with homozygous familial hypercholesterolemia

✍ Stephan A. Schmitz; Declan P. O’Regan; Julie Fitzpatrick; Clare Neuwirth; Elizab 📂 Article 📅 2007 🏛 Springer 🌐 English ⚖ 101 KB

Homozygosity for a splice junction mutat

Homozygosity for a splice junction mutation in exon 8 of the gene encoding lysosomal acid lipase in a Spanish kindred with cholesterol ester storage disease (CESD)

✍ Sandro Muntoni; Heiko Wiebusch; Harald Funke; Emilio Ros; Udo Seedorf; Gerd Assm 📂 Article 📅 1995 🏛 Springer 🌐 English ⚖ 438 KB