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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Bibliographic Details
Main Author: Ferreira, Filipa (author)
Other Authors: 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)
Format: article
Language:eng
Published: 2019
Subjects:
Cystinosis
CTNS Gene
Mutational Spectrum
Kidney Failure
57-kb
Deletion
Molecular Genetics Profile
Portuguese Population
Doenças Genéticas
Online Access:http://hdl.handle.net/10400.18/6305
Country:Portugal
Oai:oai:repositorio.insa.pt:10400.18/6305

Internet

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

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