Genetic Landscape of Nephropathic Cystinosis in Russian Children

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 concentration in polymorphonuclear blood leukocyt...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9096100/
https://www.ncbi.nlm.nih.gov/pubmed/35571017
http://dx.doi.org/10.3389/fgene.2022.863157

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