A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the CTNS Mutational Spectrum in the Middle East

Background: Nephropathic Cystinosis, the most common cause of renal Fanconi syndrome, is a lysosomal transport disorder with an autosomal recessive inheritance pattern. A large number of mutations in CTNS have been identified as causative to date. A 57 kb deletion encompassing parts of CTNS is most...

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Detalhes bibliográficos
Publicado no:Front Pediatr
Main Authors: Najafi, Maryam, Tamandani, Dor Mohammad Kordi, Azarfar, Anoush, Bakey, Zeineb, Behjati, Farkhondeh, Antony, Dinu, Schüle, Isabel, Sadeghi-Bojd, Simin, Karimiani, Ehsan Ghayoor, Schmidts, Miriam
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2019
Assuntos:
Pediatrics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6437787/
https://ncbi.nlm.nih.gov/pubmed/30949462
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fped.2019.00089
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