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>...

Descripción completa

Detalles Bibliográficos
Autores principales: Barros de Oliveira Sá, Marcus Villander, Siqueira Pacheco, Flavio José, Carvalho Figueredo, Jorge Luiz, de Sá Miranda Cavancante Filho, Gustavo Henrique, de Oliveira Silva, Thiago, Silva Vasconcelos, Luydson Richardson
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SMC Media Srl 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9829024/
https://www.ncbi.nlm.nih.gov/pubmed/36632541
http://dx.doi.org/10.12890/2022_003655

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9829024/
https://www.ncbi.nlm.nih.gov/pubmed/36632541
http://dx.doi.org/10.12890/2022_003655

Ejemplares similares