✦ LIBER ✦

Charcterization of novel mutations in familial hypercholesterolemia

✍ Scribed by Schmidt, H.; Stuhrmann, M.; Dörk, T.; Haas, R.; Tietge, U.; Ebhard, M.; Schmidtke, J.; Manns, M.

Book ID: 122654559
Publisher: Elsevier Science
Year: 1998
Tongue: English
Weight: 155 KB
Volume: 114
Category: Article
ISSN: 0016-5085
DOI: 10.1016/S0016-5085(98)85428-0

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Novel stop mutation causing familial hyp

Novel stop mutation causing familial hypercholesterolemia in a Costa Rican family

✍ Rochelle Thiart; Odell Loubser; J.Nico P de Villiers; Maria Santos; Maritha J Ko 📂 Article 📅 1997 🏛 Elsevier Science 🌐 English ⚖ 91 KB

Frequent Detection of Familial Hyperchol

Frequent Detection of Familial Hypercholesterolemia Mutations in Familial Combined Hyperlipidemia

✍ Gail P. Jarvik; John D. Brunzell; Arno G. Motulsky 📂 Article 📅 2008 🏛 Elsevier Science 🌐 English ⚖ 71 KB

Novel Revelations in Familial Hyperchole

Novel Revelations in Familial Hypercholesterolemia*

✍ Banerjee, Yajnavalka; Al-Rasadi, Khalid; Al-Zidi, Ward Al-Muna; Al-Waili, Khalid 📂 Article 📅 2013 🏛 Elsevier 🌐 English ⚖ 39 KB

Two novel LDL receptor mutations in fami

Two novel LDL receptor mutations in familial hypercholesterolemia: C122Y and E296X

✍ Janine Genschel; Hans-Peter Thomas; Ursula Kassner; Herbert Lochs; Elisabeth Ste 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 14 KB

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

Molecular basis of familial hypercholest

Molecular basis of familial hypercholesterolemia in Brazil: Identification of seven novel LDLR gene mutations

✍ Luis A. Salazar; Mario H. Hirata; Selma A. Cavalli; Edna R. Nakandakare; Neusa F 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 150 KB 👁 1 views

## Communicated by Mark H. Paalman Low-density lipoprotein receptor (LDLR) gene mutations cause familial hypercholesterolemia (FH), one of the most common single gene disorders. The spectrum of LDLR mutations in Brazil is not known. The aim of this study was the characterization of LDLR mutations