The 57 kb deletion in cystinosis patients extends into TRPV1 causing dysregulation of transcription in peripheral blood mononuclear cells

K.A. Freed, J. Blangero, T. Howard, M.P. Johnson, J.E. Curran, Y.R. Garcia, H.-C. Lan, H.E. Abboud, Eric Moses

Research output: Contribution to journalArticlepeer-review

13 Citations (Scopus)
Original languageEnglish
Pages (from-to)563-566
JournalJournal of Medical Genetics
Publication statusPublished - 2011

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