✦ LIBER ✦

1.P.246 New missense and frameshift mutations in the LDL receptor gene causing Japanese familial hypercholesterolemia

✍ Scribed by H. Hattori; M. Nagano; T. Iwasaki; T. Egashira; Y. Homma

Book ID: 119437290
Publisher: Elsevier Science
Year: 1997
Tongue: English
Weight: 188 KB
Volume: 134
Category: Article
ISSN: 0021-9150
DOI: 10.1016/s0021-9150(97)88422-5

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Two novel missense mutations in the LDL

Two novel missense mutations in the LDL receptor gene causing familial hypercholesterolemia

✍ Kaja E. Gundersen; Kari Solberg; Olaug K. Rødningen; Serena Tonstad; Leiv Ose; K 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 264 KB

Screening for known mutations in the LDL

Screening for known mutations in the LDL receptor gene causing familial hypercholesterolemia

✍ Trond P. Leren,Hilde Sundvold,Olaug K. Rødningen,Serena Tonstad… 📂 Article 📅 1996 🏛 Springer 🌐 English ⚖ 33 KB

Screening for known mutations in the LDL

Screening for known mutations in the LDL receptor gene causing familial hypercholesterolemia

✍ Trond P. Leren; Hilde Sundvold; Olaug K. Rødningen; Serena Tonstad; Kari Solberg 📂 Article 📅 1995 🏛 Springer 🌐 English ⚖ 637 KB

Mutations in the LDL receptor gene causi

Mutations in the LDL receptor gene causing mRNA deficienty in heterozygous familial hypercholesterolemia

✍ P. Lombardi; E. Sijbrands; J. Defesche; J. Kastelein; R.R. Frants; L.M. Havekes 📂 Article 📅 1995 🏛 Elsevier Science 🌐 English ⚖ 104 KB

Recurrent and novel LDL-receptor gene mu

Recurrent and novel LDL-receptor gene mutations causing heterozygote familial hypercholesterolemia in La Habana

✍ E. Perreira; R. Ferrera; B. Hermelin; C. Bernard; V. Bertrand; P. Benlian; G. Be 📂 Article 📅 1994 🏛 Elsevier Science 🌐 English ⚖ 156 KB

Identification of recurrent and novel mu

Identification of recurrent and novel mutations in the LDL receptor gene in Japanese familial hypercholesterolemia

✍ Hiroaki Hattori; Makoto Nagano; Fujihiko Iwata; Yasuhiko Homma; Tohru Egashira; 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 19 KB 👁 2 views

We used the denaturing gradient gel electrophoresis (DGGE) method to investigate 120 Japanese patients with familial hypercholesterolemia (FH) for mutations in the promoter region and the 18 exons and their flanking intron sequence of the low density lipoprotein (LDL) receptor gene. Fourteen aberran