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) and...
Na minha lista:
| Udgivet i: | J Clin Invest |
|---|---|
| Principais autores: | , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
American Society for Clinical Investigation
1992
|
| Fag: | |
| Online adgang: | 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 |
| Tags: |
Ingen Tags, Vær først til at tagge denne postø!
|