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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| Year of Publication: | 2022 |
| Language: | English |
| Physical Description: | 1 electronic resource (230 p.) |
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Electronic
| DOAB Directory of Open Access Books | Available |