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Akademický článek
New ATP7B Gene Mutation in a Brazilian Patient with Wilson Disease
Autor: Marcus Villander Barros de Oliveira Sá, Flavio José Siqueira Pacheco, Jorge Luiz Carvalho Figueredo, Gustavo Henrique de Sá Miranda Cavancante Filho, Thiago de Oliveira Silva, Luydson Richardson Vasconcelos Silva
Publikováno v: European Journal of Case Reports in Internal Medicine (2022)
We report the case of a 70-year-old man diagnosed with late-onset Wilson disease (WD) with mild neurological symptoms only and a new mutation in the ATP7B gene. A compound mutation of the ATP7B gene was found with the variant c.98T>C p(Met33Thr) in e
Externí odkaz: https://doaj.org/article/9dbf088e4d1b4c709ad9cdb6d3e059f2
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New ATP7B Gene Mutation in a Brazilian Patient with Wilson Disease
Autor: Luydson Richardson Vasconcelos Silva, Thiago de Oliveira Silva, Gustavo Henrique de Sá Miranda Cavancante Filho, Jorge Luiz Carvalho Figueredo, Flavio José Siqueira Pacheco, Marcus Villander Barros de Oliveira Sá
Publikováno v: European Journal of Case Reports in Internal Medicine.
We report the case of a 70-year-old man diagnosed with late-onset Wilson disease (WD) with mild neurological symptoms only and a new mutation in the ATP7B gene. A compound mutation of the ATP7B gene was found with the variant c.98T>C p(Met33Thr) in e
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6ad0a2c24da5605a7387601cbb7ad8a4
https://doi.org/10.12890/2022_003655
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