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10.1159/000479729

http://scihub22266oqcxt.onion/10.1159/000479729
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C5597921!5597921!28924445
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suck abstract from ncbi


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pmid28924445      Case+Rep+Ophthalmol 2017 ; 8 (2): 446-51
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  • The First Argentinian Family with Familial Amyloidosis of the Finnish Type #MMPMID28924445
  • Lucero Saá F; Cremona FA; Mínguez NX; Igarzabal ML; Chiaradía P
  • Case Rep Ophthalmol 2017[May]; 8 (2): 446-51 PMID28924445show ga
  • Familial amyloidosis of the Finnish type or Meretoja syndrome is a rare autosomic dominant inherited systemic condition. It was first described by Meretoja in Finland in 1969. It is a disease produced by a single mutation in the gene coding for gelsolin, which generates an abnormal protein that cumulates in tissues and leads to various signs. Obtaining an early diagnosis can be challenging, as the first manifestations of the disease are ophthalmological and may only be seen with slit-lamp biomicroscopy. We present the first 3 cases diagnosed in Argentina, confirmed by genetic molecular testing.
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