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New ATP7B Gene Mutation in a Brazilian Patient with Wilson Disease

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 exon 2, in heterozygosis, and variant c.2224G>A (Va...

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Principais autores: 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
Formato: Artigo
Idioma:Inglês
Publicado: SMC MEDIA SRL 2022-12-01
Series:European Journal of Case Reports in Internal Medicine
Assuntos:
wilson disease
atp7b gene
older age
Acceso en liña:https://www.ejcrim.com/index.php/EJCRIM/article/view/3655
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