✦ LIBER ✦

Genetic Causes of Monogenic Heterozygous Familial Hypercholesterolemia: A HuGE Prevalence Review

✍ Scribed by Austin, M. A.

Book ID: 115450131
Publisher: Oxford University Press
Year: 2004
Tongue: English
Weight: 211 KB
Volume: 160
Category: Article
ISSN: 0002-9262
DOI: 10.1093/aje/kwh236

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Prevalence and predictors of subclinical

Prevalence and predictors of subclinical coronary artery disease in patients with confirmed heterozygous familial hypercholesterolemia

✍ Lumby, J.; Moffat, A.; Bates, T.; Watts, G.; Abraham, A. 📂 Article 📅 2014 🏛 Elsevier Science 🌐 English ⚖ 51 KB

Heterozygous familial hypercholesterolem

Heterozygous familial hypercholesterolemia: Failure of normal allele to compensate for mutant allele at a regulated genetic locus

✍ Goldstein, Joseph L.; Sobhani, Mary K.; Faust, Jerry R.; Brown, Michael S. 📂 Article 📅 1976 🏛 Elsevier Science 🌐 English ⚖ 727 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

Same extent of coronary calcification in

Same extent of coronary calcification in heterozygous familial hypercholesterolemia caused by a receptor defective and a receptor negative mutation in Danish patients

✍ J.U. Brorholt-Petersen; T. Christiansen; H.K. Jensen; J.M. Jensen; B. Raungaard; 📂 Article 📅 1999 🏛 Elsevier Science 🌐 English ⚖ 281 KB

Single-nucleotide polymorphisms may caus

Single-nucleotide polymorphisms may cause erroneous results in primer-introduced restriction enzyme analyses:a case of molecular misdiagnosis of homozygous vs heterozygous familial hypercholesterolemia

✍ AF Vuorio; L Paulin; J Saltevo; K Kontula 📂 Article 📅 1999 🏛 Elsevier Science 🌐 English ⚖ 127 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