数据库名称：LDLR FH
数据库简述：
所属国家/地区：United Kingdom
数据库主要信息：Familial hypercholesterolemia (FH) (OMIM 143890) is most commonly caused by variations in the LDLR gene which encodes the receptor for Low Density Lipoprotein (LDL) cholesterol particles. We have updated the University College London (UCL) LDLR FH database (http://www.ucl.ac.uk/ldlr) by adding variants reported in the literature since 2001, converting existing entries to standard nomenclature, and transferring the database to the Leiden Open Source Variation Database (LOVD) platform. As of July 2007 the database listed 1066 unique LDLR gene events.
建立年份：2008
联系信息：Contact information
University/Institution:
Royal Free and University College London Medical School
Address:
City:
Province/State:
Country/Region:
United Kingdom
Contact name (PI/Team):
Dr. Johan T. Den Dunnen
Contact email (PI/Helpdesk):
ddunnen@lumc.nl
