✦ LIBER ✦

A novel mutation in Exon 4 of the low density lipoprotein receptor gene resulting in heterozygous familial hypercholesterolemia associated with decreased ligand binding

✍ Scribed by Barbara A. Morash; Meng-Hee Tan; Bassam A. Nassar; Catherine K.L. Too; Duane L. Guernsey

Book ID: 119436439
Publisher: Elsevier Science
Year: 1998
Tongue: English
Weight: 209 KB
Volume: 136
Category: Article
ISSN: 0021-9150
DOI: 10.1016/s0021-9150(97)00174-3

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

A novel deletion/inversion mutation in t

A novel deletion/inversion mutation in the low-density lipoprotein receptor gene as a cause of heterozygous familial hypercholesterolemia

✍ 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

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

High prevalence of a novel mutation in t

High prevalence of a novel mutation in the exon 4 of the low-density lipoprotein receptor gene causing familial hypercholesterolemia in Belgium

✍ O. Descamps; J-C. Hondekijn; P. Van Acker; J-P. Deslypere; F. R. Heller 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 570 KB

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

A point mutation in the low density lipo

A point mutation in the low density lipoprotein receptor gene that causes exon skipping and is associated with severe familial hypercholesterolemia (FH)

✍ X.-M. Sun; D.D. Patel; S. McCarthy; B.L. Knight; A.K. Soutar 📂 Article 📅 1994 🏛 Elsevier Science 🌐 English ⚖ 145 KB