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Autor:
Mariem El Younsi, Médiha Trabelsi, Sandra Ben Youssef, Inès Ouertani, Yousra Hammi, Ahlem Achour, Faouzi Maazoul, Maher Kharrat, Tahar Gargah, Ridha M’rad
Publikováno v:
Pediatric nephrology (Berlin, Germany). 38(1)
Nephropathic cystinosis is an autosomal recessive disease caused by a mutation in the CTNS gene which encodes cystinosin, a lysosomal cystine transporter. The spectrum of mutations in the CTNS gene is not well defined in the North African population.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d34a3616e6a7cf30d7f7b70dc4ae424e
https://pubmed.ncbi.nlm.nih.gov/35445972
https://pubmed.ncbi.nlm.nih.gov/35445972
