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Flashcards in Gain of Function Deck (13)
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1

Hemoglobin Kempsey

Asp99Asn missense mutation

2

Asp99Asn missense mutation

Hemoglobin Kempsey

3

Hemoglobin Kempsey - Symptoms

hemoglobin molecule which has higher than normal oxygen affinity, and is less able to unload oxygen in the tissues, polycythemia

4

hemoglobin molecule which has higher than normal oxygen affinity, and is less able to unload oxygen in the tissues, polycythemia

Hemoglobin Kempsey - Symptoms

5

Achodroplasia

FGFR3 (fibroblast growth factor receptor 3)

6

FGFR3 (fibroblast growth factor receptor 3)

Achodroplasia

7

Achodroplasia - symptoms

Skeletal dysplasia, Rhizomelic limb shortening, small stature, trident hands, short fingers, large head/frontal bossing

8

Skeletal dysplasia, Rhizomelic limb shortening, small stature, trident hands, short fingers, large head/frontal bossing

Achodroplasia - symptoms

9

Charcot-Marie-Tooth disease

duplication of PMP22 gene, leading to elevated PMP22 protein

10

duplication of PMP22 gene

Charcot-Marie-Tooth disease

11

Charcot-Marie-Tooth disease - Symptoms

lower extremities with weakness and muscle atrophy and mild sensory loss

12

lower extremities with weakness and muscle atrophy and mild sensory loss

Charcot-Marie-Tooth disease - Symptoms

13

Alzheimer's in Trisomy 21

3 total copies of the APP (21q21) leading to increased production of APP protein