Associated Papers
Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.
Chau JFT et al.
Npj Genomic Medicine, 2022
35314707 (PubMed )
Supplement: 41525_2022_287_MOESM3_ESM.xlsx › SNV
Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria.
Menao S et al.
Human Mutation, 2009
Molecular genetics of HMG-CoA lyase deficiency.
Pié J et al.
Molecular Genetics and Metabolism, 2007
Mutations underlying 3-hydroxy-3-methylglutaryl CoA lyase deficiency in the Saudi population.
Al-Sayed M et al.
Bmc Medical Genetics, 2006
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