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

Katy A. Freed, John Blangero, Tom Howard, Matthew P. Johnson, Joanne E. Curran, Yvonne R. Garcia, Hao Chang Lan, Hanna E. Abboud, Eric K. Moses

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Medicine & Life Sciences