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The First Korean Family With Hereditary Gelsolin Amyloidosis Caused by p.D214Y Mutation in the GSN Gene

Hereditary gelsolin amyloidosis (HGA) is an autosomal dominant hereditary disease characterized by corneal lattice dystrophy, peripheral neuropathy, and cutis laxa. So far, no Korean patients with HGA have been reported. A 58-yr-old man presented with involuntary facial twitching, progressive bilate...

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Detalhes bibliográficos
Publicado no:Ann Lab Med
Main Authors: Park, Kyoung-Jin, Park, Jong-Ho, Park, June-Hee, Cho, Eun Bin, Kim, Byoung Joon, Kim, Jong-Won
Formato: Artigo
Idioma:Inglês
Publicado em: The Korean Society for Laboratory Medicine 2016
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4773268/
https://ncbi.nlm.nih.gov/pubmed/26915616
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3343/alm.2016.36.3.259
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