A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the CTNS Mutational Spectrum in the Middle East
نویسندگان
چکیده
منابع مشابه
Mutational Spectrum of the CTNS Gene in Egyptian Patients with Nephropathic Cystinosis.
BACKGROUND Nephropathic cystinosis is a rare autosomal recessive disorder caused by mutations in the CTNS gene, encoding for cystinosin, a carrier protein transporting cystine out of lysosomes. Its deficiency leads to cystine accumulation and cell damage in multiple organs, especially in the kidney. In this study, we aimed to provide the first report describing the mutational spectrum of Egypti...
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©Copyright 2017 by the Atatürk University School of Medicine Available online at www.eurasianjmed.com ABSTRACT Cystinosis is a rare autosomal recessive metabolic disorder characterized by the accumulation of cystine in lysosomes, which results from defects in the carrier-mediated transport protein encoded by the CTNS gene. Infantile nephropathic cystinosis (INC) is one of the major complication...
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ژورنال
عنوان ژورنال: Frontiers in Pediatrics
سال: 2019
ISSN: 2296-2360
DOI: 10.3389/fped.2019.00089