MLYCD
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://lsdb.hgu.mrc.ac.uk/home.php?select_db=MLYCD
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资源简介：
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.
提供机构：
Western General Hospital
创建时间：
2018-02-09
