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: | Électronique Chapitre de livre |
Langue: | anglais |
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Basel
MDPI - Multidisciplinary Digital Publishing Institute
2022
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Accès en ligne: | DOAB: download the publication DOAB: description of the publication |
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DOAB: download the publicationDOAB: description of the publication
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