Question 1
Question
Identificati mutatiile missense:
Answer
-
E421V
-
ΔΑ329
-
P63X
-
356A>G
-
R84K
Question 2
Question
Identificati componente necesare amplificarii genei COL1A1:
Question 3
Question
Identificati componente necesare amplificarii genei COL1A1:
Question 4
Question
Identificati gena autosomala:
Question 5
Question
Identificati gena autosomala:
Question 6
Question
Identificati gena responsabila de alfa-talasemie:
Question 7
Question
Identificati gena responsabila de Beckwith-Wiedemann:
Question 8
Question
Identificati gena responsabila de beta-talasemie:
Question 9
Question
Identificați gena responsabilă de Fenilcetonurie:
Question 10
Question
Identificați gena responsabilă de hemofilia A:
Question 11
Question
Identificați gena responsabilă de hemofilia B:
Question 12
Question
Identificati gena responsabila de Hemofilia B:
Question 13
Question
Identificati gena responsabila de hipercolesterolemia familiala:
Answer
-
COL1A1
-
COL4A5
-
LDLR
-
CFTR
-
HBA
Question 14
Question
Identificati gena responsabila de mieloleucemia cronica:
Answer
-
LDLR
-
PAH
-
ABL
-
COL4A5
-
COL1A1
Question 15
Question
Identificați gena responsabilă de mucovicidoză:
Question 16
Question
Identificati gena responsabila de mucoviscidoza:
Question 17
Question
Identificati gena responsabila de Osteogeneza imperfecta:
Question 18
Question
Identificati gena responsabila de Osteogeneza imperfecta:
Question 19
Question
Identificati gena responsabila de s. Waardenburg:
Question 20
Question
Identificati gena responsabila de sdr Li-Fraumeni: