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Scientists unravel the molecular origin of rare genetic disease cystinosis

The rare genetic disease cystinosis is caused by mutations in the gene for a protein called cystinosin. A team of scientists has now solved the structure of cystinosin and determined how mutations interfere with its normal function, providing insights into the underlying mechanisms and suggesting a way to develop new treatments for the disease.
Glenn Millhauser Rong Wang Philip Schmiege Emily Henderson Lliang Feng Xiaochun Li

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