Cargando…
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>...
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: | |
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 |
Ejemplares similares
-
Chilblains Associated with Chronic Chikungunya
por: de Oliveira Sá, Marcus Villander Barros, et al.
Publicado: (2022) -
Hyponatremia in elderly patients with fragility fractures of the proximal femur: a cross-sectional study
por: Rocha, Aída Fernanda Batista, et al.
Publicado: (2019) -
Development and Validation of a Stratification Tool for Predicting
Risk of Deep Sternal Wound Infection after Coronary Artery Bypass Grafting at a
Brazilian Hospital
por: Sá, Michel Pompeu Barros Oliveira, et al.
Publicado: (2017) -
Decline in Stroke Mortality Between 1997 and 2012 by Sex: Ecological Study in Brazilians Aged 15 to 49 Years
por: da Silva Paiva, Laércio, et al.
Publicado: (2019) -
Urinary ATP May Be a Dynamic Biomarker of Detrusor Overactivity in Women with Overactive Bladder Syndrome
por: Silva-Ramos, Miguel, et al.
Publicado: (2013)