Cellular and Molecular Mechanisms of Nephropathic Cystinosis
Nephropathic cystinosis (MIM # 219800) is a rare autosomal recessive disorder caused by mutations in the lysosomal cystine transporter cystinosin, encoded by the CTNS gene (17p13.2). This devastating condition initially affects kidneys and subsequently many other organs including eyes, thyroid, panc...
| Format: | eBook |
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| Language: | English |
| Published: |
Basel
MDPI - Multidisciplinary Digital Publishing Institute
2022
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| Online Access: | Open Access: DOAB: description of the publication Open Access: DOAB, download the publication |