CTNS Molecular Genetics Profile in a Portuguese Cystinosis Population

Background: Cystinosis is a multisystemic autosomal recessive deficiency of the lysosomal membrane transporter protein (cystinosin) caused by mutations in CTNS gene. Objective : This study summarizes the Portuguese experience in the diagnosis and management of patients with this rare disease over th...

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Detalhes bibliográficos
Autor principal: Ferreira, Filipa (author)
Outros Autores: Leal, Inês (author), Sousa, David (author), Costa, Teresa (author), Mota, Conceição (author), Gomes, Ana Marta (author), Lopes, Daniela (author), Carmo Macário, Maria do (author), Tavares, Isabel (author), Pinto, Helena (author), Oliveira, João Paulo (author), Magriço, Rita (author), Carmona, Célia (author), Ramos, Sónia (author), Neiva, Raquel (author), Marcão, Ana (author), Vilarinho, Laura (author)
Formato: article
Idioma:eng
Publicado em: 2019
Assuntos:
Cystinosis
CTNS Gene
Mutational Spectrum
Kidney Failure
57-kb
Deletion
Molecular Genetics Profile
Portuguese Population
Doenças Genéticas
Texto completo:http://hdl.handle.net/10400.18/6305
País:Portugal
Oai:oai:repositorio.insa.pt:10400.18/6305

Texto Completo

http://hdl.handle.net/10400.18/6305

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