Details
| Name | NA |
| Type | somatic mutation |
| Species | Homo sapiens |
| Tissue | blood samples |
| Experiment Method | qPCR |
| Up/Down | NA |
| Pro/Anti | Pro |
| Funtion Description | The LMNA mutation that caused LCPS in this family is a heterozygous c.899A>G (p.D300G) mutation predicted to alter the coiled-coil domain of lamin A/C. In skin fibroblasts isolated from the proband, the processing and levels of lamin A and C are normal. H |
| Regulation Gene | LMNA |
| Year | 2013 |
| Pubmed ID | 23666920 |
| Title | LMNA-associated cardiocutaneous progeria: an inherited autosomal dominant premature aging syndrome with late onset |
| Drug | NA |
| Disease | Hutchinson-Gilford progeria syndrome |
| Environment Factors | NA |
| Circulating | 1 |
| Variant | somatic mutation |
| High-throughput | NA |