Loss Of Function Mutations Flashcards
1
Q
Atropic thyroiditis
A
TSH Receptor
2
Q
Insulin resistant diabetes
A
Insulin receptor
3
Q
Myasthenia gravis
A
Nicotonic cholinergic receptor
4
Q
Hypergonadotropic ovarian dysgenesis
A
Luteinizing hormone receptor
5
Q
Various cancers
A
TGF-beta receptors
6
Q
Cancers
A
RTK
7
Q
Familial ACTH resistance
A
ACTH
8
Q
Familial hypothyroidism
A
TSH
9
Q
Familial hypocalciuric hypercalcemia
A
Calcium receptor
10
Q
Central hypothyroidism
A
TRH
11
Q
GH deficiency
A
GHRH
12
Q
Hypogonadotropic hypogonadism
A
GNRH
13
Q
Blomstrand chondrodysplasia
A
PTH
14
Q
Color blindness
A
Cone opsins
15
Q
Hypergonadotropic ovarian failure
A
FSH