✦ LIBER ✦

Evidence that Familial Hypercholesterolemia Mutations of the LDL Receptor Cause Limited Local Misfolding in an LDL-A Module Pair †

✍ Scribed by North, Christopher L.; Blacklow, Stephen C.

Book ID: 126116196
Publisher: American Chemical Society
Year: 2000
Tongue: English
Weight: 498 KB
Volume: 39
Category: Article
ISSN: 0006-2960
DOI: 10.1021/bi0015156

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

Identification of a Novel Frame Shift Mu

Identification of a Novel Frame Shift Mutation of the LDL Receptor Gene Causing Familial Hypercholesterolemia in Omani Family*

✍ Khalid Ali Al-Waili; Ali Al-Hinai; Abdulrahim Al-Abri; Khalid Al-Rasadi; Humood 📂 Article 📅 2011 🏛 Elsevier 🌐 English ⚖ 111 KB

Two novel mutations in the LDL receptor

Two novel mutations in the LDL receptor gene: common causes of familial hypercholesterolemia in a Spanish population

✍ A. Cenarro; H. K. Jensen; F. Civeira; E. Casao; J. Ferrando; J. González-Bonillo 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 586 KB

Identification of a novel mutation in ex

Identification of a novel mutation in exon 13 of the LDL receptor gene causing familial hypercholesterolemia in two Spanish families

✍ Ana Cenarro; Henrik K. Jensen; Elena Casao; Fernando Civeira; José Gonzàlez-Boni 📂 Article 📅 1996 🏛 Elsevier Science 🌐 English ⚖ 369 KB

Association of an Exon 3 Mutation (Trp66

Association of an Exon 3 Mutation (Trp66 → Gly) of the LDL Receptor with Variable Expression of Familial Hypercholesterolemia in a French Canadian Family

✍ Emile Levy; Anne Minnich; Suzanne Lussier Cacan; Louise Thibault; Louise-Marie G 📂 Article 📅 1997 🏛 Elsevier Science 🌐 English ⚖ 152 KB

A single-base substitution in the proxim

A single-base substitution in the proximal Sp1 binding site of the human LDL receptor promoter as a cause of familial hypercholesterolemia: a novel type of a mutation causing disordered lipoprotein metabolism

✍ K.K. Kontula; U.-M. Koivisto; J.J. Palvimo; O.A. Ja¨nne 📂 Article 📅 1994 🏛 Elsevier Science 🌐 English ⚖ 158 KB