Nalaganje...
Two different allelic mutations in the lecithin-cholesterol acyltransferase gene associated with the fish eye syndrome. Lecithin-cholesterol acyltransferase (Thr123----Ile) and lecithin-cholesterol acyltransferase (Thr347----Met).
We have elucidated the genetic defect in a 66-yr-old patient with fish eye syndrome (FES) presenting with severe corneal opacities and hypoalphalipoproteinemia. The patient's plasma concentration of high density lipoprotein (HDL) cholesterol was reduced at 7.7 mg/dl (35.1-65.3 mg/dl in controls...
Shranjeno v:
| izdano v: | J Clin Invest |
|---|---|
| Main Authors: | , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
American Society for Clinical Investigation
1992
|
| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC442879/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1737840/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI115612 |
| Oznake: |
Označite
Brez oznak, prvi označite!
|