An Italian family affected by Nasu-Hakola disease with a novel genetic mutation in the TREM2 gene.
Soragna
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D
Papi
L
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Ratti
M T
MT
Sestini
R
R
Tupler
R
R
Montalbetti
L
L
D048868:Adaptor Proteins, Signal Transducing; D000328:Adult; D001845:Bone Cysts / Q000150:complications* / Q000235:genetics*; D004252:DNA Mutational Analysis; D003704:Dementia / Q000150:complications* / Q000235:genetics*; D005260:Female; D006801:Humans; D008562:Membrane Glycoproteins; D008565:Membrane Proteins; D008875:Middle Aged; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D011971:Receptors, Immunologic / Q000235:genetics*; D013344:Subacute Sclerosing Panencephalitis / Q000150:complications* / Q000235:genetics*; D009626:Terminology as Topic; D000073871:Triggering Receptor Expressed on Myeloid Cells-1
D048868:Adaptor Proteins, Signal Transducing; D008562:Membrane Glycoproteins; D008565:Membrane Proteins; D011506:Proteins; D011971:Receptors, Immunologic; C408842:TREM1 protein, human; C498715:TREM2 protein, human; C110546:TYROBP protein, human; D000073871:Triggering Receptor Expressed on Myeloid Cells-1