LDLR FH
收藏国家生物信息中心2025-10-11 更新2025-03-15 收录
下载链接：
http://www.ucl.ac.uk/ldlr
下载链接
链接失效反馈官方服务：
资源简介：
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.
提供机构：
Royal Free and University College London Medical School
创建时间：
2018-01-27
