| Id |
Subject |
Object |
Predicate |
Lexical cue |
| 1702428-0#56#74#gene4023 |
855-938 |
gene4023 |
denotes |
le194, located near the putative interfacial recognition site of lipoprotein lipase |
| 1702428-0#102#140#diseaseC2931862 |
1296-1807 |
diseaseC2931862 |
denotes |
for each base substitution. Transient expression of each of the mutant lipoprotein lipase cDNAs in human embryonal kidney-293 cells resulted in the synthesis of enzymically inactive proteins, establishing the functional significance of the mutations. We conclude that the Ile194 to Thr194 and Arg243 to His243 substitutions occur in lipoprotein lipase regions essential for normal enzyme activity and each mutation results in the expression of a nonfunctional enzyme leading to the hyperchylomicronemia syndrome |
| 1702428-10#82#100#gene4023 |
1629-1647 |
gene4023 |
denotes |
lipoprotein lipase |
| 1702428-10#231#251#diseaseC0023817 |
1778-1798 |
diseaseC0023817 |
denotes |
hyperchylomicronemia |
| 56#74#gene4023102#140#diseaseC2931862 |
1702428-0#56#74#gene4023 |
1702428-0#102#140#diseaseC2931862 |
associated_with |
"le194, located near the putative interfacial recognition site of lipoprotein lipase","for each base substitution. Transient expression of each of the mutant lipoprotein lipase cDNAs in human embryonal kidney-293 cells resulted in the synthesis of enzymically inactive proteins, establishing the functional significance of the mutations. We conclude that the Ile194 to Thr194 and Arg243 to His243 substitutions occur in lipoprotein lipase regions essential for normal enzyme activity and each mutation results in the expression of a nonfunctional enzyme leading to the hyperchylomicronemia syndrome" |
| 82#100#gene4023231#251#diseaseC0023817 |
1702428-10#82#100#gene4023 |
1702428-10#231#251#diseaseC0023817 |
associated_with |
lipoprotein lipase,hyperchylomicronemia |
