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...
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Format: | Electronic Book Chapter |
Language: | English |
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Basel
MDPI - Multidisciplinary Digital Publishing Institute
2022
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Online Access: | DOAB: download the publication DOAB: description of the publication |
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Internet
DOAB: download the publicationDOAB: description of the publication
3rd Floor Main Library
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A1234.567 |
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Copy 1 | Available |