𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Detection of a single base deletion in codon 424 of the low density lipoprotein receptor gene in a Danish family with familial hypercholesterolemia

✍ Scribed by Henrik Nissen; Annebirthe Bo Hansen; Per Guldberg; Niels Erik Petersen; Mogens Lytken Larsen; Torben Haghfelt; Karsten Kristiansen; Mogens Hørder

Book ID
118324608
Publisher
Elsevier Science
Year
1994
Tongue
English
Weight
664 KB
Volume
111
Category
Article
ISSN
0021-9150

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A novel deletion in the low-density lipo
A novel deletion in the low-density lipoprotein receptor gene in a patient with familial hypercholesterolemia from Petersburg
✍ Michail Ju. Mandelshtam; Boris M. Lipovetskyi; Alexandr L. Schwartzman; Vladimir 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 451 KB 👁 1 views

Fifty St. Petersburg patients with type IIa hyperlipoproteinemia were screened for the presence of structural rearrangements in the low-density lipoprotein receptor (LDLR) gene. One novel deletion of the length about 5 kilobases (kb) was found. This deletion seems to remove completely exons 4, 5, an

Three novel partial deletions of the low
Three novel partial deletions of the low-density lipoprotein (LDL) receptor gene in familial hypercholesterolemia
✍ Kimiko Yamakawa; Kohki Takada; Hisako Yanagi; Shigeru Tsuchiya; Koichi Kawai; So 📂 Article 📅 1989 🏛 Springer 🌐 English ⚖ 587 KB

The low-density lipoprotein (LDL) receptor genes from 18 unrelated Japanese heterozygotes and 1 homozygote with classical familial hypercholesterolemia were analyzed by Southern blot hybridization using fragments of the human LDL receptor cDNA as probes. Four different deletion mutations were detect

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