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

• Главные авторы: Maryam Najafi (Автор), Dor Mohammad Kordi Tamandani (Автор), Anoush Azarfar (Автор), Zeineb Bakey (Автор), Farkhondeh Behjati (Автор), Dinu Antony (Автор), Isabel Schüle (Автор), Simin Sadeghi-Bojd (Автор), Ehsan Ghayoor Karimiani (Автор), Miriam Schmidts (Автор)
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• Опубликовано: Frontiers Media S.A., 2019-03-01T00:00:00Z.
• Предметы: article
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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...