Loss Of Function Mutations Flashcards

1
Q

Atropic thyroiditis

A

TSH Receptor

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2
Q

Insulin resistant diabetes

A

Insulin receptor

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3
Q

Myasthenia gravis

A

Nicotonic cholinergic receptor

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4
Q

Hypergonadotropic ovarian dysgenesis

A

Luteinizing hormone receptor

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5
Q

Various cancers

A

TGF-beta receptors

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6
Q

Cancers

A

RTK

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7
Q

Familial ACTH resistance

A

ACTH

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8
Q

Familial hypothyroidism

A

TSH

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9
Q

Familial hypocalciuric hypercalcemia

A

Calcium receptor

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10
Q

Central hypothyroidism

A

TRH

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11
Q

GH deficiency

A

GHRH

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12
Q

Hypogonadotropic hypogonadism

A

GNRH

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13
Q

Blomstrand chondrodysplasia

A

PTH

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14
Q

Color blindness

A

Cone opsins

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15
Q

Hypergonadotropic ovarian failure

A

FSH

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