A new genetic variant of hereditary apolipoprotein A-I amyloidosis: a case-report followed by discussion of diagnostic challenges and therapeutic options

BACKGROUND: Hereditary amyloidosis refers to a wide spectrum of rare diseases with different causative mutations in the genes of various proteins including transthyretin, apolipoprotein AI and AII, gelsolin, lysozyme, cystatin C, fibrinogen Aα-chain, β2-microglobulin, apolipoprotein CII and CIII. CA...

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Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: Moutafi, Myrto, Ziogas, Dimitrios C., Michopoulos, Spyros, Bagratuni, Tina, Vasileiou, Vassiliki, Verga, Laura, Merlini, Giampaolo, Palladini, Giovanni, Matsouka, Charis, Dimopoulos, Meletios A., Kastritis, Efstathios
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2019
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6341640/
https://ncbi.nlm.nih.gov/pubmed/30665372
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-019-0755-5
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