@article{1b5b2b65d8f6492cb82125e7d48b22b8,
title = "The 57 kb deletion in cystinosis patients extends into TRPV1 causing dysregulation of transcription in peripheral blood mononuclear cells",
author = "K.A. Freed and J. Blangero and T. Howard and M.P. Johnson and J.E. Curran and Y.R. Garcia and H.-C. Lan and H.E. Abboud and Eric Moses",
year = "2011",
doi = "10.1136/jmg.2010.083303",
language = "English",
volume = "48",
pages = "563--566",
journal = "Journal of Medical Genetics",
issn = "0022-2593",
publisher = "BMJ Publishing Group",
}