✦ LIBER ✦

Identification of a double mutation in the low-density lipoprotein receptor gene causing familial hypercholesterolemia

✍ Scribed by P. Lombardi; S. W. A. Kamerling; J. C. Defesche; J. J. P. Kastelein; L. M. Havekes

Book ID: 115091864
Publisher: John Wiley and Sons
Year: 2008
Tongue: English
Weight: 308 KB
Volume: 50
Category: Article
ISSN: 0009-9163
DOI: 10.1111/j.1399-0004.1996.tb02727.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A novel V415A mutation in exon 9 of the

A novel V415A mutation in exon 9 of the low density lipoprotein receptor gene causing familial hypercholesterolemia

✍ P. Lombardi; J.C. Defesche; S.W.A. Kamerling; J.J.P. Kastelein; L.M. Havekes 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 216 KB

Identification of three mutations in the

Identification of three mutations in the low-density lipoprotein receptor gene causing familial hypercholesterolemia among French Canadians

✍ Patrick Couture; Marie-Claude Vohl; Claude Gagné; Daniel Gaudet; Ana L. Torres; 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 751 KB

A novel mutation M-21V in exon 1 of the

A novel mutation M-21V in exon 1 of the low density lipoprotein receptor gene causing familial hypercholesterolemia

✍ P. Lombardi; J.C. Defesche; S.W.A. Kamerling; J.J.P. Kastelein; L.M. Havekes 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 159 KB

Mutations of the low-density-lipoprotein

Mutations of the low-density-lipoprotein receptor gene and familial hypercholesterolemia

✍ Neil S. Shachter; Judah Weinberger 📂 Article 📅 1994 🏛 Elsevier Science 🌐 English ⚖ 783 KB

A missense mutation in the low density l

A missense mutation in the low density lipoprotein receptor gene causes familial hypercholesterolemia in Sephardic Jews

✍ Eran Leitersdorf; Ayeleth Reshef; Vardiella Meiner; Eldad J. Dann; Yitzhak Beige 📂 Article 📅 1993 🏛 Springer 🌐 English ⚖ 1000 KB

Familial hypercholesterolemia (FH) is an autosomal dominant disease caused by mutations in the low density lipoprotein (LDL) receptor gene. Here, we characterize an LDL receptor mutation that is associated with a distinct haplotype and that causes FH in the Jewish Sephardic population originating fr

Identification of a mutation in the low

Identification of a mutation in the low density lipoprotein receptor gene associated with recessive familial hypercholesterolemia in swine

✍ 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