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Autor:
Savostyanov, K. V., Pushkov, A. A., Shchagina, O. A., Maltseva, V. V., Suleymanov, E. A., Zhanin, I. S., Mazanova, N. N., Fisenko, A. P., Mishakova, P. S., Polyakov, A. V., Balanovska, E. V., Zinchenko, R. A., Tsygin, A. N.
Publikováno v:
Frontiers in Genetics. 13
Nephropathic cystinosis is a rare autosomal recessive disorder characterized by amino acid cystine accumulation and caused by biallelic mutations in the CTNS gene. The analysis methods are as follows: tandem mass spectrometry to determine the cystine
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0becf7bbd593ff166f75ea2a5040e322
https://doi.org/10.3389/fgene.2022.863157
https://doi.org/10.3389/fgene.2022.863157
