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2501
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Alzheimer’s
Disease
... precursor protein
mutations
... Presenilin 1 and 2 gene
mutations
... chromosome 21) Signs /
Symptoms
... diagnosis #signs #
symptoms
Gaucher
Disease
... ß-glucocerebrosidase activity •
Mutation
... #Gauchers #
Disease
... Diagnosis #Signs #
Symptoms
epidemiology of this
disease
... history of the
disease
... arises via sporadic
mutation
... Predisposition ->
Mutation
... immunity Signs/
Symptoms
Visual or auditory
symptoms
... conjunction with
symptoms
... and less common
diseases
... infections • Lyme
disease
... exonuclease 1 (TREX1)
mutations
growth AND • JAK2
mutation
... When present,
symptoms
... • "Vasomotor"
symptoms
... the reduction of
symptoms
... von Willebrand
disease
System for Wilson's
Disease
... - Neurological
symptoms
... (2 points) -
Mutation
... unlikely #Wilsons #
Disease
NTPPPH enzyme and
mutations
... Pseudogout #CPPD #
Disease
... #Signs #
Symptoms
age, however the
disease
... HLH signs and
symptoms
... HLH-associated
mutations
defect -
Mutations
... ATPase - AEI
mutations
... - Autoimmune
diseases
... - Sickle cell
disease
... - SCNN
mutation
due to ALS -
Mutations
... Presentation: -
Disease
... course of the
disease
... fasciculations Common
Symptoms
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