来自MSN1 个月
Gene variant could protect against ultra-rare seizure disorder, fruit fly research finds
The results are published in The American Journal of Human Genetics. Everyone with PIGA-CDG has a change in a gene called PIGA. But the scientists had noticed that in one family that included ...
EurekAlert!1 个月
Gene variant could protect against ultra-rare seizure disorder, fruit fly research finds
Everyone with PIGA-CDG has a change in a gene called PIGA. But the scientists had noticed that in one family that included people with the disease, some members were perfectly healthy—despite ...
Indiatimes26 天
Is your urine color hiding a dangerous disease? Uncovering PNH
The key diagnostic tool is flow cytometry, which detects the absence of certain proteins (CD55 and CD59) on RBCs linked to PIGA gene mutation. Additional tests, such as coagulation studies and ...