数据库名称：MLYCD
数据库简述：Human MLYCD Allelic Variant Database
所属国家/地区：United Kingdom
数据库主要信息：Malonyl-CoA decarboxylase (MLYCD) deficiency is an autosomal recessive disorder characterized by malonic aciduria, developmental delay, seizure disorder, hypoglycemia, and cardiomyopathy. Genomic sequencing of MLYCD in nine unrelated patients identified 16 of 18 pathogenic alleles, which are documented in the newly created Human MLYCD Allelic Variant Database.
建立年份：2003
联系信息：Contact information
University/Institution:
Western General Hospital
Address:
Medical Research Council Human Genetics Unit, Western General Hospital, Edinburgh, UK.
City:
Edinburgh
Province/State:
Country/Region:
United Kingdom
Contact name (PI/Team):
D.R. FitzPatrick
Contact email (PI/Helpdesk):
david.fitzpatrick@hgu.mrc.ac.uk
