✦ LIBER ✦

A Novel Cellular Phenotype for Familial Hypercholesterolemia due to a Defect in Polarized Targeting of LDL Receptor

✍ Scribed by Ulla-Maija Koivisto; Ann L. Hubbard; Ira Mellman

Book ID: 117268761
Publisher: Elsevier Science
Year: 2001
Tongue: English
Weight: 776 KB
Volume: 105
Category: Article
ISSN: 0092-8674
DOI: 10.1016/s0092-8674(01)00371-3

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Clinical Expression of Familial Hypercho

Clinical Expression of Familial Hypercholesterolemia in Clusters of Mutations of the LDL Receptor Gene That Cause a Receptor-Defective or Receptor-Negative Phenotype

✍ Bertolini, S.; Cantafora, A.; Averna, M.; Cortese, C.; Motti, C.; Martini, S.; P 📂 Article 📅 2000 🏛 Lippincott Williams and Wilkins 🌐 English ⚖ 534 KB

Alternative splicing of LDL-receptor mRN

Alternative splicing of LDL-receptor mRNA in a patient with familial hypercholesterolemia due to a duplication of exons 16 and 17

✍ S. Calandra; N. Lelli; R. Garuti; F. Zambelli 📂 Article 📅 1992 🏛 Elsevier Science 🌐 English ⚖ 124 KB

A novel method for determining functiona

A novel method for determining functional LDL receptor activity in familial hypercholesterolemia: Application of the CD3/CD28 assay in lymphocytes

✍ Hayato Tada; Masa-aki Kawashiri; Tohru Noguchi; Mika Mori; Masayuki Tsuchida; Mu 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 591 KB

No genetic linkage or molecular evidence

No genetic linkage or molecular evidence for involvement of the PCSK9, ARH or CYP7A1 genes in the Familial Hypercholesterolemia phenotype in a sample of Danish families without pathogenic mutations in the LDL receptor and apoB genes

✍ Dorte Damgaard; Jesper Moeller Jensen; Mogens Lytken Larsen; Vibeke Reiche Soere 📂 Article 📅 2004 🏛 Elsevier Science 🌐 English ⚖ 96 KB