Genetic mutation screening for the low-density lipoprotein receptor

Rapid restriction fragment analysis for

Rapid restriction fragment analysis for screening four point mutations of the Low-density lipoprotein receptor gene in French Canadians

✍ Marie-Claude Vohl; Patrick Couture; Sital Moorjani; Ana L. Torres; Claude Gagné; 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 373 KB 👁 1 views

## Communicated by Lnp.chee Tsui Familial hypercholesterolemia (FH) has an estimated frequency of 1:154 among French Canadians in Northeastern Quebec, compared with 1:500 in most other populations. FH is caused by numerous mutations of the low-density lipoprotein (LDL) receptor gene, but only six

Reconstitution of the low density lipopr

Reconstitution of the low density lipoprotein receptor

✍ Wolfgang J. Schneider 📂 Article 📅 1983 🏛 John Wiley and Sons 🌐 English ⚖ 767 KB

The receptor for low density lipoprotein was purified from bovine adrenal cortex in the presence of the nonionic detergent octylglucoside. Receptors were incorporated into the bilayer of egg phosphatidylcholine vesicles by a detergent-dialysis method. Reconstituted receptors were functional in that

Possible common mutations in the low den

Possible common mutations in the low density lipoprotein receptor gene in Chinese

✍ Y.T. Mak; J. Zhang; Y.S. Chan; T.W.L. Mak; B. Tomlinson; J.R.L. Masarei; Dr. C.P 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 383 KB 👁 1 views

Spectrum of low density lipoprotein rece

Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients

✍ Viera Kuhrová; Hana Francová; Petra Zapletalová; Tomáš Freiberger; Lenka Fajkuso 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 31 KB

The aim of our study was to define mutations causing familial hypercholesterolemia (FH) phenotype in Czech hypercholesterolemic individuals. A combination of heteroduplex analysis, SSCP, DGGE, DNA sequencing and PCR/restriction analysis was used for this purpose. Molecular searching in the promoter

Spectrum of low density lipoprotein rece

Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients

✍ Viera Kuhrová; Hana Francová; Petra Zapletalová; Tomáš Freiberger; Lenka Fajkuso 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 32 KB

The aim of our study was to define mutations causing familial hypercholesterolemia (FH) phenotype in Czech hypercholesterolemic individuals. A combination of heteroduplex analysis, SSCP, DGGE, DNA sequencing and PCR/restriction analysis was used for this purpose. Molecular searching in the promoter

Mutations of the low density lipoprotein

Mutations of the low density lipoprotein receptor in Japanese kindreds with familial hypercholesterolemia

✍ Tohru Funahashi; Yasuko Miyake; Akira Yamamoto; Yuji Matsuzawa; Bun-ichiro Kishi 📂 Article 📅 1988 🏛 Springer 🌐 English ⚖ 595 KB

Mutations of the low density lipoprotein (LDL) receptor in 16 Japanese kindreds with homozygous familial hypercholesterolemia (FH) were studied using an anti-LDL receptor antibody. The LDL receptor mutations in Japanese FH were heterogeneous and included defects in synthesis, post-translational proc