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1. Leahey AM, Charnas LR, Nussbaum RL. Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe. Hum Mol Genet. 1993;2:461 - 3.DOI: 10.1093/hmg/2.4.461
2. De Matteis MA, Staiano L, Emma F, Devuyst O. The 5-phosphatase OCRL in Lowe syndrome and Dent disease 2. Nature Reviews Nephrology. 2017;13:455 - 70. DOI: 10.1038/nrneph.2017.83
3. Hoopes RR Jr, Shrimpton AE, Knohl SJ, Hueber P, Hoppe B, Matyus J, Simckes A, Tasic V, Toenshoff B, Suchy SF, Nussbaum RL, Scheinman SJ. Dent Disease with mutations in OCRL1. Am J Hum Genet. 2005;76:260 - 7. DOI: 10.1086/427887