Identification of single-nucleotide polymorphisms in the human LPIN1 gene.

Abstract excerpt

Because mutations in the murine analog of human LPIN1 cause lipodystrophy in mice, LPIN1 is a candidate gene for human lipodystrophy syndromes. To identify possible disease mutations and/or common single-nucleotide polymorphisms (SNPs), we developed primer pairs to amplify the 21 exons of LPIN1. We used these primer pairs to sequence LPIN1 in lipodystrophy patients who had no mutations in known lipodystrophy...

Topics

• Animals
• Genotype
• Humans
• Lipodystrophy
• Mice
• Nuclear Proteins
• Phosphatidate Phosphatase
• Polymorphism, Single Nucleotide