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defect -
Mutations
... ATPase - AEI
mutations
... defect - ENaC
mutation
... - SCNN
mutation
... HTN (WNKI and 4
mutations
Each individual
mutation
... However, when these
mutations
Symptoms -
Caused
... by
mutations
in
Causes
of Dilated ... cardiomyopathy, Genetic
causes
... , Unknown
causes
... recessive, X-Iinked
mutations
... Other secondary
causes
Causes
of Hypercalcemia ... elasticum, CYP24A1
mutation
... infantile), SLC34A1
mutation
... Hypercalcemia #VitaminD #
causes
Alzheimer's (99% of
cases
... Alzheimer's (1% of
cases
... precursor protein
mutations
... Presenilin 1 and 2 gene
mutations
rechallenge and other
causes
... out other common
causes
... Class II:
Cases
... and atleast4
case
... #Pancreatitis #
Causes
rarely recessive)
mutations
... : inactivating
mutations
... recessive or dominant
mutations
... uropathy, Metabolic
causes
Causes
of Erythema ... Mnemonic NO
cause
... found in 60% of
cases
... Nodosum #Mnemonic #
Causes
vera → Blood JAK2
mutation
... thrombocythemia → Blood
mutation
... marrow biopsy with
mutation
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