𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A high incidence of mutations in exon 6 of the low-density lipoprotein receptor gene in Greek familial hypercholesterolemia patients, including a novel mutation

✍ Scribed by Nicholas Mavroidis; Joanne Traeger-Synodinos; Emmanuel Kanavakis; Eurydiki Drogari; Nicholas Matsaniotis; Steve E. Humphries; Ian N. M. Day; Christos Kattamis


Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
120 KB
Volume
9
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Identification of a mutation in the low
✍ Hasler-Rapacz, Judith; Ellegren, Hans; Fridolfsson, Anna-Karin; Kirkpatrick, Bri πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 25 KB πŸ‘ 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 novel point mutation in a splice accep
✍ Takao Maruyama; Yasuko Miyake; Taku Yamamura; Shoji Tajima; Tohru Funahashi; Yuj πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 163 KB πŸ‘ 2 views

Familial hypercholesterolemia (FH) is a genetic disorder caused by mutations in the low density lipoprotein (LDL)-receptor gene. We found a new mutation in the splice acceptor site of intron 1 of the LDL receptor gene, which is designated as 68-1 G->C according to the nomenclature suggested by , in

Lipid-lowering response of the HMG-CoA r
✍ Luis A. Salazar; Mario H. Hirata; Γ‰der C.R. QuintΓ£o; Rosario D.C. Hirata πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 63 KB

Although the efficacy of fluvastatin (HMG-CoA reductase inhibitor) in the treatment of primary hypercholesterolemia is well documented, a wide interindividual variation treatment response has been observed. We have studied the possible role of the AvaII (exon 13), HincII (exon 12), and PvuII (intron

Two novel mutant alleles of the gene enc
✍ Marek Bodzioch; Katarzyna Lapicka; Charalampos Aslanidis; Marek Kacinski; Gerd S πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 34 KB πŸ‘ 2 views

Congenital insensitivity to pain with anhidrosis (CIPA), also called hereditary sensory and autonomic neuropathy type IV (HSAN IV), is caused by mutations of the NTRK1 gene coding for the neurotrophic tyrosine kinase receptor type 1. We report the results of the NTRK1 sequence analysis in a CIPA fam