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pro vyhledávání: '"Diebold Marie-Hélène"'
Autor:
Bretaudeau Clara, Paredes Francesca Siu, Sergheraert Johan, Massa Luciana, Laurence Sébastien, Diebold Marie-Hélène, Lefèvre Benoît, Mauprivez Cédric
Publikováno v:
Journal of Oral Medicine and Oral Surgery, Vol 24, Iss 3, Pp 138-142 (2018)
Introduction: Cystinosis is a rare genetic disease due to a defective transport of cystine out of the lysosomes, caused by a mutation of the gene encoding for the lysosomal carrier protein, the cystinosin. Cystine accumulation results in the formatio
Externí odkaz:
https://doaj.org/article/a1143bcd75e54583b8faa19226df6737