Personalized medicine Flashcards
1
Q
Early onsent encephalopathy gene:
A
GRIN2D
2
Q
SMA how common:
A
1 per 8-10,0000
3
Q
How much percent of SMA is recessive and how many is de novo
A
95%; 2%
4
Q
Neuron effected in SMA:
A
motor
5
Q
Where is SMA found in:
A
axon, cytoplasm + nucleus
6
Q
Base chance in SMN 2:
A
C -> T
7
Q
Exon effected in SMN2:
A
7- it is removed
8
Q
Melanoma process:
A
BRAFV600E -> activate MAPK -> stop apoptosis
9
Q
Treatment for melanoma:
A
vemurafenib
