Identification and Detection of the Common 65-kb Deletion Breakpoint in the Nephropathic Cystinosis Gene (CTNS)
- 28 February 1999
- journal article
- Published by Elsevier in Molecular Genetics and Metabolism
- Vol. 66 (2), 111-116
- https://doi.org/10.1006/mgme.1998.2790
Abstract
No abstract availableKeywords
This publication has 22 references indexed in Scilit:
- CTNS Mutations in an American-Based Population of Cystinosis PatientsAmerican Journal of Human Genetics, 1998
- Linkage of the gene for cystinosis to markers on the short arm of chromosome 17Nature Genetics, 1995
- Distal vacuolar myopathy in nephropathic cystinosisAnnals of Neurology, 1994
- Parenchymal organ cystine depletion with long-term cysteamine therapyBiochemical Medicine and Metabolic Biology, 1992
- Pancreatic exocrine insufficiency in a patient with nephropathic cystinosisThe Journal of Pediatrics, 1988
- Cysteamine Therapy for Children with Nephropathic CystinosisNew England Journal of Medicine, 1987
- Removal of Corneal Crystals by Topical Cysteamine in Nephropathic CystinosisNew England Journal of Medicine, 1987
- Cystine Transport Is Defective in Isolated Leukocyte Lysosomes from Patients with CystinosisScience, 1982
- Evidence for Cerebral Involvement in Nephropathic CystinosisNeuropediatrics, 1979
- Cystinosis. Intracellular cystine depletion by aminothiols in vitro and in vivo.Journal of Clinical Investigation, 1976