Compound heterozygosity of novel missense mutations (Ser45 --> Gly, Cys278 --> Arg) in the lipoprotein lipase gene in a newborn Korean infant

MeSH terms

• Arginine / genetics*
• Cysteine / genetics*
• Female
• Glycine / genetics*
• Heterozygote*
• Humans
• Infant, Newborn
• Infant, Small for Gestational Age
• Korea
• Lipoprotein Lipase / genetics*
• Male
• Mutation, Missense*
• Pedigree
• Serine / genetics*